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.Y2026*

c.6078T>G

Surrounding Variants

1 paper

NM_032119.4

p.Y2026*

c.6078T>A

1 paper

NM_032119.4

p.Y2026insFs

c.6077dupA

2 papers

NM_032119.4

p.P2024S

c.6070C>T

1 paper

NM_032119.4

p.P2029L

c.6086C>T

1 paper

NM_032119.4

p.A2032fs

c.6094_6095fs

3 papers

NM_032119.4

p.A2032V

c.6095C>T

1 paper

NM_032119.4

p.D2020N

c.6058G>A

1 paper

NM_032119.4

p.T2035I

c.6104C>T

1 paper

NM_032119.4

p.T2017I

c.6050C>T

1 paper

NM_032119.4

p.Y2015F

c.6044A>T

1 paper

NM_032119.4

p.D2039G

c.6116A>G

1 paper

NM_032119.4

p.S2014P

c.6040T>C