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.S2458_E2459delFs

c.7374_7375delTG

Surrounding Variants

1 paper

NM_032119.4

p.C2463Y

c.7388G>A

1 paper

NM_032119.4

p.A2451V

c.7352C>T

1 paper

NM_032119.4

p.A2451T

c.7351G>A

2 papers

NM_032119.4

p.A2448T

c.7342G>A

3 papers

NM_032119.4

p.W2469*

c.7406G>A

3 papers

NM_032119.4

p.W2469*

c.7407G>A

1 paper

NM_032119.4

p.I2470L

c.7408A>C

1 paper

NM_032119.4

p.E2446K

c.7336G>A

3 papers

NM_032119.4

p.E2446fs

c.7336_7337fs

3 papers

NM_032119.4

p.E2446delFs

c.7336delG

2 papers

NM_032119.4

p.A2440V

c.7319C>T

1 paper

NM_032119.4

p.T2441_L2444delFs

c.7321_7330del10