RAMP1 (O60894) variants and mutations
RAMP1 (also known as O60894) is a human protein-coding gene encoding a receptor activity-modifying protein 1 protein. An accessory membrane protein that transports CALCRL to the cell surface and changes the receptor's ligand specificity. Together with CALCRL it forms the CGRP receptor complex, linking RAMP1 to vascular signaling and pain pathways. This analysis covers 386 RAMP1 variants and mutations. Of these, 87% have computational variant effect predictions. Disease context includes migraine disorder, type 1 diabetes mellitus, and diabetes mellitus. Example RAMP1 variants include A2S, A2T, and A2D.
Variant analysis overview
- Gene: RAMP1
- Protein: O60894
- UniProt accession: O60894
- Organism: Homo sapiens
- Variants analyzed: 386
- Variant scope: all variants
- Completed: 2026-07-23
Variant and mutation evidence
- Variant composition: 196 unspecified-consequence records; 17 frameshift variants; 86 missense variants; 77 synonymous variants; 4 stop-gained variants; 2 in-frame deletions; 2 splice-region variants; 1 in-frame insertions; 1 substitution
- Prediction scores: 337 variants have prediction scores (87% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: migraine disorder, type 1 diabetes mellitus, diabetes mellitus, type 2 diabetes mellitus, Abnormal nasolacrimal system morphology, adolescent idiopathic scoliosis, humerus fracture, Abnormality of the genital system, Hypoglycemia, Hyperglycemia, Obesity, COVID-19.
Protein structure and variant hotspots
- Protein features: 1 transmembrane segments.
- Structural context: 57 variants have structural context.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable RAMP1 variants
Examples include A2S, A2T, A2D, A2V, A2A, R3P, R3W, R3G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- A2S (p.Ala2Ser), gnomAD 2-237859679-G-T, REVEL 0.02, CADD 20.90
- A2T (p.Ala2Thr), gnomAD 2-237859679-G-A, REVEL 0.01, CADD 21.40
- A2D (p.Ala2Asp), gnomAD 2-237859680-C-A, REVEL 0.04, CADD 22.60
- A2V (p.Ala2Val), gnomAD 2-237859680-C-T, REVEL 0.01, CADD 15.10
- A2A (p.Ala2Ala), rs2304436, gnomAD 2-237859681-C-T, CADD 9.64
- R3P (p.Arg3Pro), gnomAD rs2062112864, REVEL 0.01, CADD 7.26
- R3W (p.Arg3Trp), Ensembl rs2062112846, REVEL 0.04, CADD 23.10
- R3G (p.Arg3Gly), gnomAD 2-237859679-GC-G, CADD 22.50
- R3R (p.Arg3Arg), gnomAD 2-237859682-C-A, CADD 9.70
- R3L (p.Arg3Leu), gnomAD 2-237859683-G-T, REVEL 0.00, CADD 6.47
- R3Q (p.Arg3Gln), gnomAD 2-237859683-G-A, REVEL 0.04, CADD 6.24
- A4T (p.Ala4Thr), TOPMed rs1191319497, gnomAD rs1191319497, REVEL 0.01, CADD 12.20
- A4V (p.Ala4Val), gnomAD rs1274451887, REVEL 0.00, CADD 2.28
- A4P (p.Ala4Pro), gnomAD 2-237859682-CG-C, CADD 14.40
- A4S (p.Ala4Ser), gnomAD 2-237859685-G-T, REVEL 0.01, CADD 8.50
- A4D (p.Ala4Asp), gnomAD 2-237859686-C-A, REVEL 0.00, CADD 2.55
- A4A (p.Ala4Ala), gnomAD 2-237859687-C-A, CADD 7.67
- L5L (p.Leu5Leu), gnomAD 2-237859688-C-T, CADD 7.24
- L5M (p.Leu5Met), gnomAD 2-237859688-C-A, REVEL 0.03, CADD 11.70
- L5V (p.Leu5Val), gnomAD 2-237859688-C-G, REVEL 0.03, CADD 10.20
- L5P (p.Leu5Pro), gnomAD 2-237859689-T-C, REVEL 0.13, CADD 16.70
- L5Q (p.Leu5Gln), gnomAD 2-237859689-T-A, REVEL 0.06, CADD 15.80
- C6S (p.Cys6Ser), gnomAD rs1326475722, REVEL 0.05, CADD 10.10
- C6F (p.Cys6Phe), gnomAD 2-237859692-G-T, REVEL 0.03, CADD 9.62
- C6Y (p.Cys6Tyr), gnomAD 2-237859692-G-A, REVEL 0.04, CADD 8.06
- C6C (p.Cys6Cys), gnomAD 2-237859693-C-T, CADD 4.67
- C6* (p.Cys6Ter), gnomAD 2-237859693-C-A, CADD 32.00
- R7H (p.Arg7His), TOPMed rs2062113128, REVEL 0.10, CADD 10.40
- R7S (p.Arg7Ser), gnomAD 2-237859694-C-A, REVEL 0.02, CADD 6.40
- R7G (p.Arg7Gly), gnomAD 2-237859694-C-G, REVEL 0.02, CADD 7.40
- R7C (p.Arg7Cys), gnomAD 2-237859694-C-T, REVEL 0.10, CADD 14.20
- R7L (p.Arg7Leu), gnomAD 2-237859695-G-T, REVEL 0.03, CADD 7.94
- R7P (p.Arg7Pro), gnomAD 2-237859695-G-C, REVEL 0.06, CADD 13.70
- R7R (p.Arg7Arg), gnomAD 2-237859696-C-A, CADD 7.06
- L8R (p.Leu8Arg), TOPMed rs2062113146
- L8I (p.Leu8Ile), gnomAD 2-237859697-C-A, REVEL 0.01, CADD 11.80
- L8P (p.Leu8Pro), gnomAD 2-237859698-T-C, REVEL 0.11, CADD 20.40
- L8L (p.Leu8Leu), gnomAD 2-237859699-C-G, CADD 7.40
- P9L (p.Pro9Leu), TOPMed rs1261233358, gnomAD rs1261233358, REVEL 0.02, CADD 7.36, Uncertain significance
- P9R (p.Pro9Arg), TOPMed rs1261233358, gnomAD rs1261233358, REVEL 0.02, CADD 6.18, Uncertain significance, not specified
- P9S (p.Pro9Ser), TOPMed rs1207955479, gnomAD rs1207955479, REVEL 0.05, CADD 10.50
- P9T (p.Pro9Thr), gnomAD 2-237859700-C-A, REVEL 0.05, CADD 10.20
- P9A (p.Pro9Ala), gnomAD 2-237859700-C-G, REVEL 0.09, CADD 8.00
- P9Q (p.Pro9Gln), gnomAD 2-237859701-C-A, REVEL 0.02, CADD 6.71
- P9P (p.Pro9Pro), gnomAD 2-237859702-G-A, CADD 11.30
- R10Q (p.Arg10Gln), TOPMed rs1287976125, REVEL 0.02, CADD 19.40
- R10W (p.Arg10Trp), TOPMed rs1486839130, gnomAD rs1486839130, REVEL 0.01, CADD 17.80
- R10A (p.Arg10Ala), gnomAD 2-237859698-T-TC, CADD 22.90
- R10R (p.Arg10Arg), rs1486839130, gnomAD 2-237859703-C-A, CADD 9.85
- R10L (p.Arg10Leu), gnomAD 2-237859704-G-T, REVEL 0.03, CADD 20.10
- R11P (p.Arg11Pro), gnomAD 2-237859706-CG-C, CADD 24.80
- R11G (p.Arg11Gly), gnomAD 2-237859706-C-G, REVEL 0.03, CADD 20.10
- R11C (p.Arg11Cys), gnomAD 2-237859706-C-T, REVEL 0.01, CADD 21.50
- R11S (p.Arg11Ser), gnomAD 2-237859706-C-A, REVEL 0.04, CADD 17.60
- R11H (p.Arg11His), gnomAD 2-237859707-G-A, REVEL 0.05, CADD 20.60
- R11L (p.Arg11Leu), gnomAD 2-237859707-G-T, REVEL 0.04, CADD 20.60
- R11R (p.Arg11Arg), gnomAD 2-237859708-C-A, CADD 12.70
- G12S (p.Gly12Ser), Ensembl rs2062113358, REVEL 0.04, CADD 16.40
- G12V (p.Gly12Val), TOPMed rs1266018143, gnomAD rs1266018143, REVEL 0.07, CADD 22.50
- G12C (p.Gly12Cys), gnomAD 2-237859709-G-T, REVEL 0.03, CADD 17.80
- G12D (p.Gly12Asp), gnomAD 2-237859710-G-A, REVEL 0.07, CADD 22.80
- G12G (p.Gly12Gly), gnomAD 2-237859711-C-A, CADD 12.80
- L13I (p.Leu13Ile), gnomAD 2-237859712-C-A, REVEL 0.02, CADD 23.30
- L13H (p.Leu13His), gnomAD 2-237859713-T-A, REVEL 0.12, CADD 26.00
- L13P (p.Leu13Pro), gnomAD 2-237859713-T-C, REVEL 0.23, CADD 27.00
- L13L (p.Leu13Leu), gnomAD 2-237859714-C-G, CADD 13.20
- W14L (p.Trp14Leu), TOPMed rs2062113418, gnomAD rs2062113418, REVEL 0.13, CADD 23.50
- W14A (p.Trp14Ala), rs1255267460, gnomAD 2-237859709-G-GGC, CADD 32.00
- W14R (p.Trp14Arg), gnomAD 2-237859715-T-C, REVEL 0.19, CADD 24.60
- W14* (p.Trp14Ter), gnomAD 2-237859716-G-A, CADD 43.00
- W14C (p.Trp14Cys), gnomAD 2-237859717-G-T, REVEL 0.09, CADD 23.40
- L15L (p.Leu15Leu), rs2062113440, gnomAD 2-237859718-C-T, CADD 14.20
- L15M (p.Leu15Met), gnomAD 2-237859718-C-A, REVEL 0.03, CADD 21.60
- L15P (p.Leu15Pro), gnomAD 2-237859719-T-C, REVEL 0.19, CADD 24.70
- L16F (p.Leu16Phe), gnomAD 2-237859721-C-T, REVEL 0.04, CADD 20.90
- L16P (p.Leu16Pro), gnomAD 2-237859722-T-C, REVEL 0.23, CADD 24.80
- L16L (p.Leu16Leu), rs2304437, gnomAD 2-237859723-C-A, CADD 12.00
- L17Q (p.Leu17Gln), TOPMed rs1190364026, gnomAD rs1190364026, REVEL 0.14, CADD 23.10
- L17del (p.Leu17del), gnomAD 2-237859720-GCTC-, CADD 20.10
- L17M (p.Leu17Met), gnomAD 2-237859724-C-A, REVEL 0.03, CADD 22.50
- L17L (p.Leu17Leu), gnomAD 2-237859724-C-T, CADD 14.50
- L17P (p.Leu17Pro), gnomAD 2-237859725-T-C, REVEL 0.22, CADD 23.30
- A18T (p.Ala18Thr), gnomAD rs1409776741, REVEL 0.06, CADD 33.00
- A18S (p.Ala18Ser), gnomAD 2-237859727-G-T, REVEL 0.04, CADD 28.40
- H19Y (p.His19Tyr), TOPMed rs1028323509, gnomAD rs1028323509, REVEL 0.05, CADD 15.00
- H20P (p.His20Pro), Ensembl rs1576540196
- H20Q (p.His20Gln), ExAC rs757218127, TOPMed rs757218127, gnomAD rs757218127
- H20Y (p.His20Tyr), rs888987308, ClinGen CA67922365, ClinVar RCV004445741, TOPMed rs888987308, REVEL 0.04, CADD 11.40, Uncertain significance, not specified
- H20R (p.His20Arg), gnomAD 2-237877230-A-G, REVEL 0.02, CADD 5.21
- H20H (p.His20His), rs757218127, gnomAD 2-237877231-C-T, CADD 0.41
- L21R (p.Leu21Arg), TOPMed rs2062315848
- L21H (p.Leu21His), gnomAD 2-237877231-CCTCT, CADD 22.90
- L21L (p.Leu21Leu), gnomAD 2-237877234-C-A, CADD 1.90
- F22L (p.Phe22Leu), 1000Genomes rs201860745, ExAC rs201860745, TOPMed rs201860745, gnomAD rs201860745, REVEL 0.02, CADD 7.77
- F22F (p.Phe22Phe), rs137909772, gnomAD 2-237877237-C-T, CADD 5.61
- M23I (p.Met23Ile), gnomAD rs1234611597
- M23T (p.Met23Thr), gnomAD rs1205514579
- T24A (p.Thr24Ala), Ensembl rs2151008848
- A26P (p.Ala26Pro), TOPMed rs2062316015
- A26V (p.Ala26Val), gnomAD 2-237877248-C-T, REVEL 0.12, CADD 22.60
- C27Y (p.Cys27Tyr), cosmic curated COSV10879, ExAC rs755710265, gnomAD rs755710265, REVEL 0.36, CADD 24.60
- E29E (p.Glu29Glu), rs1193160216, gnomAD 2-237877258-G-A, CADD 0.57
- A30G (p.Ala30Gly), ESP rs374749100, ExAC rs374749100, TOPMed rs374749100, gnomAD rs374749100, REVEL 0.03, CADD 12.50, Uncertain significance, not specified
- A30P (p.Ala30Pro), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- A30T (p.Ala30Thr), gnomAD 2-237877259-G-A, REVEL 0.04, CADD 6.38
- N31D (p.Asn31Asp), TOPMed rs1393788019, gnomAD rs1393788019, REVEL 0.03, CADD 0.01
- N31* (p.Asn31Ter), rs772855534, gnomAD 2-237877260-C-CT, CADD 22.50
- Y32F (p.Tyr32Phe), rs748950129, ClinGen CA2193175, ClinVar RCV004140648, ExAC rs748950129, REVEL 0.08, CADD 2.41, Uncertain significance, not specified
- Y32* (p.Tyr32Ter), gnomAD 2-237877259-G-GCT, CADD 22.40
- Y32Y (p.Tyr32Tyr), rs144179532, gnomAD 2-237877267-C-T, CADD 0.64
- G33S (p.Gly33Ser), cosmic curated COSV10959, 1000Genomes rs200746457, ExAC rs200746457, TOPMed rs200746457, REVEL 0.04, CADD 7.46
- A34G (p.Ala34Gly), gnomAD 2-237877272-C-G, REVEL 0.08, CADD 7.71
- L35P (p.Leu35Pro), gnomAD 2-237877271-G-GC, CADD 21.80
- L36F (p.Leu36Phe), ExAC rs771395188, gnomAD rs771395188, REVEL 0.10, CADD 14.20
- R37G (p.Arg37Gly), ExAC rs781748441, TOPMed rs781748441, gnomAD rs781748441, REVEL 0.09, CADD 12.40
- R37Q (p.Arg37Gln), cosmic curated COSV54537, 1000Genomes rs142335491, ESP rs142335491, ExAC rs142335491, REVEL 0.02, CADD 0.85
- R37W (p.Arg37Trp), cosmic curated COSV54539, ExAC rs781748441, TOPMed rs781748441, gnomAD rs781748441, REVEL 0.10, CADD 22.40, Uncertain significance, not specified
- E38* (p.Glu38Ter), NCI-TCGA Cosmic COSV5453, cosmic curated COSV54538, Variant assessed as somatic; high impact.
- E38K (p.Glu38Lys), NCI-TCGA Cosmic COSV5453, REVEL 0.04, CADD 8.81, Variant assessed as somatic; moderate impact.
- E38Q (p.Glu38Gln), ExAC rs775366491, TOPMed rs775366491, gnomAD rs775366491, REVEL 0.06, CADD 13.80
- L39F (p.Leu39Phe), gnomAD rs1324705939, REVEL 0.05, CADD 0.01
- L39L (p.Leu39Leu), rs1371615994, gnomAD 2-237877288-C-G, CADD 0.93
- C40F (p.Cys40Phe), Ensembl rs2151008882
- C40W (p.Cys40Trp), ExAC rs763176383, gnomAD rs763176383
- L41F (p.Leu41Phe), ExAC rs768826156, TOPMed rs768826156, gnomAD rs768826156, REVEL 0.32, CADD 21.10
- L41I (p.Leu41Ile), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L41P (p.Leu41Pro), rs2473724171, ClinGen CA351220617, ClinVar RCV004104903, REVEL 0.46, CADD 23.60, Uncertain significance, not specified
- L41L (p.Leu41Leu), rs774524755, gnomAD 2-237877294-C-T, CADD 2.05
- T42P (p.Thr42Pro), Ensembl rs1576540288
- T42T (p.Thr42Thr), gnomAD 2-237877297-C-T, CADD 5.16
- Q43* (p.Gln43Ter), gnomAD rs1293147561, CADD 36.00
- Q43R (p.Gln43Arg), TOPMed rs1215314379, gnomAD rs1215314379, REVEL 0.02, CADD 0.04, Likely benign, not specified
- F44F (p.Phe44Phe), rs1275369528, gnomAD 2-237877303-C-T, CADD 6.26
- Q45H (p.Gln45His), NCI-TCGA Cosmic COSV9961, cosmic curated COSV99614, Variant assessed as somatic; moderate impact.
- D47H (p.Asp47His), TOPMed rs1370408671
- D47G (p.Asp47Gly), gnomAD 2-237877311-A-G, REVEL 0.08, CADD 23.00
- D47E (p.Asp47Glu), gnomAD 2-237877312-C-G, REVEL 0.04, CADD 8.27
- M48I (p.Met48Ile), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- M48V (p.Met48Val), TOPMed rs1044004510, gnomAD rs1044004510, REVEL 0.37, CADD 23.40
- E49G (p.Glu49Gly), NCI-TCGA TCGA novel, Ensembl rs2062317090, Variant assessed as somatic; moderate impact.
- E49Q (p.Glu49Gln), TOPMed rs1213120687, gnomAD rs1213120687, REVEL 0.12, CADD 18.20
- E49E (p.Glu49Glu), rs372292082, gnomAD 2-237877318-G-A, CADD 1.76
- A50D (p.Ala50Asp), gnomAD rs1273933225, REVEL 0.11, CADD 15.40
- A50T (p.Ala50Thr), gnomAD rs2062317197, REVEL 0.06, CADD 14.80
- A50V (p.Ala50Val), cosmic curated COSV10454, gnomAD rs1273933225, REVEL 0.10, CADD 14.90
- A50A (p.Ala50Ala), gnomAD 2-237877321-C-A, CADD 4.67
- V51F (p.Val51Phe), 1000Genomes rs372494526, ESP rs372494526, ExAC rs372494526, TOPMed rs372494526, REVEL 0.20, CADD 15.10
- V51I (p.Val51Ile), cosmic curated COSV54537, 1000Genomes rs372494526, ESP rs372494526, ExAC rs372494526, REVEL 0.05, CADD 0.12, Likely benign, not specified
- V51V (p.Val51Val), rs377248643, gnomAD 2-237877324-C-T, CADD 1.83
- G52R (p.Gly52Arg), ExAC rs760459192, TOPMed rs760459192, gnomAD rs760459192, REVEL 0.19, CADD 21.60, Uncertain significance, not specified
- G52W (p.Gly52Trp), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- G52G (p.Gly52Gly), gnomAD 2-237877327-G-C, CADD 3.46
- E53K (p.Glu53Lys), Ensembl rs939581097
- E53R (p.Glu53Arg), gnomAD 2-237877324-CG-C, CADD 23.90
- E53D (p.Glu53Asp), gnomAD 2-237877330-G-T, REVEL 0.04, CADD 15.20
- T54K (p.Thr54Lys), ExAC rs754712934, TOPMed rs754712934, gnomAD rs754712934, REVEL 0.08, CADD 0.05, Uncertain significance
- T54M (p.Thr54Met), rs754712934, ClinGen CA2193193, cosmic curated COSV10807, ClinVar RCV004445740, REVEL 0.08, CADD 7.76, Uncertain significance, not specified
- T54S (p.Thr54Ser), ExAC rs753345064, TOPMed rs753345064, gnomAD rs753345064, REVEL 0.07, CADD 0.32
- T54T (p.Thr54Thr), rs369223632, gnomAD 2-237877333-G-C, CADD 0.21
- L55L (p.Leu55Leu), rs148658989, gnomAD 2-237877336-G-C, CADD 5.04
- W56* (p.Trp56Ter), ESP rs147407024, ExAC rs147407024, TOPMed rs147407024, gnomAD rs147407024, CADD 40.00
- W56C (p.Trp56Cys), ESP rs147407024, ExAC rs147407024, TOPMed rs147407024, gnomAD rs147407024, REVEL 0.65, CADD 26.20
- W56L (p.Trp56Leu), ESP rs373719548, ExAC rs373719548, TOPMed rs373719548, gnomAD rs373719548, REVEL 0.43, CADD 25.80
- W56R (p.Trp56Arg), gnomAD 2-237877337-T-C, REVEL 0.48, CADD 25.50
- C57R (p.Cys57Arg), ExAC rs746391827, gnomAD rs746391827
- C57Y (p.Cys57Tyr), ExAC rs770143286, TOPMed rs770143286, gnomAD rs770143286, REVEL 0.77, CADD 25.20
- C57* (p.Cys57Ter), gnomAD 2-237877338-GGT-G, CADD 26.60
- D58E (p.Asp58Glu), ExAC rs780204782, gnomAD rs780204782, REVEL 0.22, CADD 24.20
- D58V (p.Asp58Val), gnomAD 2-237877338-G-GGT, CADD 27.70
- D58Y (p.Asp58Tyr), gnomAD 2-237877343-G-T, REVEL 0.42, CADD 24.10
- W59R (p.Trp59Arg), gnomAD 2-237877346-T-A, REVEL 0.59, CADD 27.90
- W59* (p.Trp59Ter), gnomAD 2-237877348-G-A, CADD 44.00
- G60S (p.Gly60Ser), ExAC rs749409676, gnomAD rs749409676, REVEL 0.07, CADD 20.50
- G60R (p.Gly60Arg), gnomAD 2-237877349-G-C, REVEL 0.20, CADD 23.30
- G60D (p.Gly60Asp), gnomAD 2-237877350-G-A, REVEL 0.06, CADD 6.91
- G60G (p.Gly60Gly), gnomAD 2-237877351-C-T, CADD 7.56
- R61S (p.Arg61Ser), gnomAD rs1377209222, REVEL 0.06, CADD 18.50
- R61G (p.Arg61Gly), gnomAD 2-237877352-A-G, REVEL 0.04, CADD 22.70
- T62A (p.Thr62Ala), gnomAD rs1232930241, REVEL 0.27, CADD 24.80
- T62N (p.Thr62Asn), gnomAD 2-237877356-C-A, REVEL 0.31, CADD 23.50
Public RAMP1 analysis runs
- RAMP1 analysis run — RAMP1 (386 variants) — completed 2026-07-23