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.E2220D

c.6660G>T

Surrounding Variants

1 paper

NM_032119.4

p.A2221G

c.6662C>G

1 paper

NM_032119.4

p.G2211E

c.6632G>A

15 papers

NM_032119.4

p.Y2232C

c.6695A>G

1 paper

NM_032119.4

p.Q2204*

c.6610C>T

4 papers

NM_032119.4

p.V2203A

c.6608T>C

1 paper

NM_032119.4

p.S2200Y

c.6599C>A

1 paper

NM_032119.4

p.S2200delFs

c.6598delT

2 papers

NM_032119.4

p.Y2194_V2203del10

c.6580_6608del30

1 paper

NM_032119.4

p.I2187M

c.6561A>G

4 papers

NM_032119.4

p.I2187V

c.6559A>G

1 paper

NM_032119.4

p.P2186T

c.6556C>A

1 paper

NM_032119.4

p.P2186A

c.6556C>G