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

14 papers

NM_032119.4

p.G1148D

c.3443G>A

Surrounding Variants

1 paper

NM_032119.4

p.F1147L

c.3441T>A

1 paper

NM_032119.4

p.F1147L

c.3441T>G

1 paper

NM_032119.4

p.F1147L

c.3439T>C

1 paper

NM_032119.4

p.Y1146*

c.3438C>G

1 paper

NM_032119.4

p.R1144*

c.3430C>T

1 paper

NM_032119.4

p.R1142K

c.3425G>A

1 paper

NM_032119.4

p.I1140insFs

c.3419dupT

1 paper

NM_032119.4

p.W1139Splc

c.3417-2A>G

1 paper

NM_032119.4

p.Q1158*

c.3472C>T

5 papers

NM_032119.4

p.S1161C

c.3482C>G

1 paper

NM_032119.4

p.Q1164P

c.3491A>C

1 paper

NM_032119.4

p.P1165L

c.3494C>T