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

13 papers

NM_032119.4

p.L2004F

c.6012G>C

Surrounding Variants

13 papers

NM_032119.4

p.L2004F

c.6012G>T

3 papers

NM_032119.4

p.G2006delFs

c.6017delG

1 paper

NM_032119.4

p.G2006S

c.6016G>A

1 paper

NM_032119.4

p.G2006C

c.6016G>T

1 paper

NM_032119.4

p.G2006fs

c.6016_6017fs

1 paper

NM_032119.4

p.G2006D

c.6017G>A

1 paper

NM_032119.4

p.G2006V

c.6017G>T

2 papers

NM_032119.4

p.G2009delFs

c.6025delG

1 paper

NM_032119.4

p.G2009E

c.6026G>A

1 paper

NM_032119.4

p.K2010R

c.6029A>G

1 paper

NM_032119.4

p.L2012F

c.6034C>T

1 paper

NM_032119.4

p.I1997T

c.5990T>C