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.P3860_D3861Splc

c.11581-2A>C

Surrounding Variants

1 paper

NM_032119.4

p.P3864T

c.11590C>A

1 paper

NM_032119.4

p.P3864L

c.11591C>T

14 papers

NM_032119.4

p.E3867K

c.11599G>A

1 paper

NM_032119.4

p.E3868K

c.11602G>A

1 paper

NM_032119.4

p.V3872F

c.11614G>T

1 paper

NM_032119.4

p.R3892Q

c.11675G>A

5 papers

NM_032119.4

p.P3894P

c.11682C>T

1 paper

NM_032119.4

p.G3895E

c.11684G>A

1 paper

NM_032119.4

p.I3901delins

c.11701delinsTAGACAGGGTTTCACC

1 paper

NM_032119.4

p.N3906fs

c.11716_11717fs

1 paper

NM_032119.4

p.P3909T

c.11725C>A

1 paper

NM_032119.4

p.R3910K

c.11729G>A