CALCRL (Q16602) variants and mutations

CALCRL (also known as Q16602) is a human protein-coding gene encoding a calcitonin gene-related peptide type 1 receptor protein. A G protein-coupled receptor whose ligand specificity is set by receptor activity-modifying proteins (RAMPs). With RAMP1 it forms the receptor for CGRP peptides, while with RAMP2 or RAMP3 it forms adrenomedullin receptors that activate cAMP signaling. This analysis covers 847 CALCRL variants and mutations. Of these, 83% have computational variant effect predictions. Disease context includes migraine disorder, hypertensive disorder, and lymphatic malformation 8. Example CALCRL variants include M1?, E2K, and K4*.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable CALCRL variants

Examples include M1?, E2K, K4*, K4M, K4R, C5Y, T6A, T6I. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.