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

13 papers

NM_032119.4

p.V1951I

c.5851G>A

Surrounding Variants

2 papers

NM_032119.4

p.S1953R

c.5857A>C

1 paper

NM_032119.4

p.S1953I

c.5858G>T

2 papers

NM_032119.4

p.S1953R

c.5859T>A

2 papers

NM_032119.4

p.S1953R

c.5859T>G

7 papers

NM_032119.4

p.D1944N

c.5830G>A

1 paper

NM_032119.4

p.E1942A

c.5825A>C

1 paper

NM_032119.4

p.D1940N

c.5818G>A

1 paper

NM_032119.4

p.H1962_I1963del1

c.5886_5888delTAT

1 paper

NM_032119.4

p.D1938D

c.5814C>T

1 paper

NM_032119.4

p.L1936S

c.5807T>C

1 paper

NM_032119.4

p.T1966T

c.5898G>A

1 paper

NM_032119.4

p.L1967delFs

c.5899_5900delTT