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.L2605V

c.7813T>G

Surrounding Variants

1 paper

NM_032119.4

p.E2607E

c.7821G>A

1 paper

NM_032119.4

p.T2613_G2614delFs

c.7839_7840delAG

1 paper

NM_032119.4

p.S2616I

c.7847G>T

1 paper

NM_032119.4

p.E2591fs

c.7771_7772fs

1 paper

NM_032119.4

p.S2590S

c.7770C>T

1 paper

NM_032119.4

p.S2590delFs

c.7770delC

2 papers

NM_032119.4

p.E2623K

c.7867G>A

2 papers

NM_032119.4

p.W2624*

c.7872G>A

7 papers

NM_032119.4

p.R2625H

c.7874G>A

13 papers

NM_032119.4

p.N2584S

c.7751A>G

1 paper

NM_032119.4

p.N2584D

c.7750A>G

1 paper

NM_032119.4

p.Y2583C

c.7748A>G