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.S2590S

c.7770C>T

Surrounding Variants

1 paper

NM_032119.4

p.E2591fs

c.7771_7772fs

1 paper

NM_032119.4

p.S2590delFs

c.7770delC

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

1 paper

NM_032119.4

p.I2582N

c.7745T>A

1 paper

NM_032119.4

p.V2581G

c.7742T>G

2 papers

NM_032119.4

p.V2579M

c.7735G>A

1 paper

NM_032119.4

p.L2605V

c.7813T>G

1 paper

NM_032119.4

p.E2607E

c.7821G>A

1 paper

NM_032119.4

p.V2569I

c.7705G>A

1 paper

NM_032119.4

p.T2613_G2614delFs

c.7839_7840delAG