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.N2345S

c.7034A>G

Surrounding Variants

1 paper

NM_032119.4

p.D2347N

c.7039G>A

1 paper

NM_032119.4

p.G2350V

c.7049G>T

3 papers

NM_032119.4

p.R2336*

c.7006C>T

1 paper

NM_032119.4

p.M2357I

c.7071G>A

1 paper

NM_032119.4

p.M2357I

c.7071G>C

1 paper

NM_032119.4

p.M2357I

c.7071G>T

8 papers

NM_032119.4

p.I2332F

c.6994A>T

1 paper

NM_032119.4

p.R2360C

c.7078C>T

2 papers

NM_032119.4

p.R2360H

c.7079G>A

1 paper

NM_032119.4

p.G2329fs

c.6985_6986fs

1 paper

NM_032119.4

p.G2328V

c.6983G>T

1 paper

NM_032119.4

p.G2328fs

c.6982_6983fs