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.G2328V

c.6983G>T

Surrounding Variants

1 paper

NM_032119.4

p.G2328fs

c.6982_6983fs

1 paper

NM_032119.4

p.G2329fs

c.6985_6986fs

2 papers

NM_032119.4

p.S2327delFs

c.6981delT

1 paper

NM_032119.4

p.D2325D

c.6975T>C

8 papers

NM_032119.4

p.I2332F

c.6994A>T

1 paper

NM_032119.4

p.T2324S

c.6971C>G

1 paper

NM_032119.4

p.T2324S

c.6970A>T

1 paper

NM_032119.4

p.V2321A

c.6962T>C

1 paper

NM_032119.4

p.V2321fs

c.6961_6962fs

1 paper

NM_032119.4

p.V2321delFs

c.6962_6963delTG

3 papers

NM_032119.4

p.R2336*

c.7006C>T

1 paper

NM_032119.4

p.I2319T

c.6956T>C