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

5 papers

NM_032119.4

p.T1916I

c.5747C>T

Surrounding Variants

1 paper

NM_032119.4

p.I1924T

c.5771T>C

3 papers

NM_032119.4

p.D1908N

c.5722G>A

3 papers

NM_032119.4

p.Q1926*

c.5776C>T

3 papers

NM_032119.4

p.T1927M

c.5780C>T

1 paper

NM_032119.4

p.W1903*

c.5709G>A

6 papers

NM_032119.4

p.A1929S

c.5785G>T

1 paper

NM_032119.4

p.W1903*

c.5708G>A

1 paper

NM_032119.4

p.H1902R

c.5705A>G

1 paper

NM_032119.4

p.N1930S

c.5789A>G

1 paper

NM_032119.4

p.L1901*

c.5702T>A

1 paper

NM_032119.4

p.L1936S

c.5807T>C

1 paper

NM_032119.4

p.D1938D

c.5814C>T