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

2 papers

NM_032119.4

p.R2360H

c.7079G>A

Surrounding Variants

1 paper

NM_032119.4

p.R2360C

c.7078C>T

2 papers

NM_032119.4

p.E2363K

c.7087G>A

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

1 paper

NM_032119.4

p.S2368G

c.7102A>G

1 paper

NM_032119.4

p.G2350V

c.7049G>T

1 paper

NM_032119.4

p.D2347N

c.7039G>A

13 papers

NM_032119.4

p.N2345S

c.7034A>G

3 papers

NM_032119.4

p.R2377*

c.7129C>T

2 papers

NM_032119.4

p.R2377Q

c.7130G>A

3 papers

NM_032119.4

p.R2336*

c.7006C>T