Varaico: Literature-Extracted Genetic Variants

ADGRV1

837 papers

RefSeq Summary

This gene encodes a member of the G-protein coupled receptor superfamily. The encoded protein contains a 7-transmembrane receptor domain, binds calcium and is expressed in the central nervous system. ...

Pfam Domains

Calx-betaaa 30–142UCSCCalx-beta domain

Calx-betaaa 140–260UCSCCalx-beta domain

Calx-betaaa 256–387UCSCCalx-beta domain

Calx-betaaa 396–512UCSCCalx-beta domain

Calx-betaaa 667–771UCSCCalx-beta domain

Calx-betaaa 770–884UCSCCalx-beta domain

Gene Aliases

HGNC Name

adhesion G protein-coupled receptor V1

HGNC Previous Symbols

USH2C; MASS1; GPR98

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_032119.4

p.E2314fs

c.6940_6941fs

Surrounding Variants

1 paper

NM_032119.4

p.D2311_P2313insFs

c.6932_6939dup8

1 paper

NM_032119.4

p.L2305fs

c.6913_6914fs

1 paper

NM_032119.4

p.L2305fs

c.6913_6914fs

1 paper

NM_032119.4

p.L2304insFs

c.6912dupG

1 paper

NM_032119.4

p.T2302N

c.6905C>A

18 papers

NM_032119.4

p.Q2301*

c.6901C>T

1 paper

NM_032119.4

p.T2299A

c.6895A>G

1 paper

NM_032119.4

p.G2290S

c.6868G>A

2 papers

NM_032119.4

p.V2288F

c.6862G>T

1 paper

NM_032119.4

p.V2287I

c.6859G>A

2 papers

NM_032119.4

p.R2286Q

c.6857G>A

2 papers

NM_032119.4

p.R2286*

c.6856C>T