G251R (p.Gly251Arg) variant of KIF1A (Kinesin-like protein KIF1A)
G251R (p.Gly251Arg) in KIF1A (Kinesin-like protein KIF1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal domi. The record also includes published literature.
G251R (p.Gly251Arg) variant details
- p.Gly251Arg
- rs2538277599
- ClinGen CA351303208
- ClinVar RCV003030819
- UniProt VAR 086869
- Pathogenic
- Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal domi
- Missense
- ClinVar: Pathogenic (Neuropathy, hereditary sensory, type 2C; Intellectual disability)
- EBI: Pathogenic (in KAND)
- UniProt: Pathogenic (in KAND)
- Cited in: Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological… (PMID 33880452)
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)