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.S2378Splc

c.7134-2A>T

Surrounding Variants

1 paper

NM_032119.4

p.G2379*

c.7135G>T

1 paper

NM_032119.4

p.L2387_F2388del1

c.7161_7163delGTT

1 paper

NM_032119.4

p.F2388L

c.7162T>C

1 paper

NM_032119.4

p.F2388L

c.7164C>A

1 paper

NM_032119.4

p.F2388L

c.7164C>G

1 paper

NM_032119.4

p.Y2389C

c.7166A>G

5 papers

NM_032119.4

p.S2392S

c.7176C>T

1 paper

NM_032119.4

p.D2393N

c.7177G>A

3 papers

NM_032119.4

p.D2393D

c.7179C>T

1 paper

NM_032119.4

p.V2396I

c.7186G>A

3 papers

NM_032119.4

p.V2396_V2397insFs

c.7188_7189ins14

1 paper

NM_032119.4

p.V2397fs

c.7189_7190fs