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.V1990A

c.5969T>C

Surrounding Variants

2 papers

NM_032119.4

p.K1989insFs

c.5965dupA

1 paper

NM_032119.4

p.V1988fs

c.5962_5963fs

16 papers

NM_032119.4

p.P1987L

c.5960C>T

1 paper

NM_032119.4

p.R1986insFs

c.5958dupA

2 papers

NM_032119.4

p.N1985H

c.5953A>C

11 papers

NM_032119.4

p.N1985D

c.5953A>G

1 paper

NM_032119.4

p.N1985fs

c.5953_5954fs

1 paper

NM_032119.4

p.N1985delFs

c.5954delA

1 paper

NM_032119.4

p.I1997T

c.5990T>C

1 paper

NM_032119.4

p.S1982Y

c.5945C>A

1 paper

NM_032119.4

p.S1982fs

c.5944_5945fs

4 papers

NM_032119.4

p.S1982insFs

c.5944dupT