Varaico: Literature-Extracted Genetic Variants

Gene:ADGRV1

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
1–12 of 2111 variants
18 papers
NM_032119.4
p.Q2301*
c.6901C>T
16 papers
NM_032119.4
p.P1987L
c.5960C>T
16 papers
NM_032119.4
p.M5890delFs
c.17668_17669delAT
15 papers
NM_032119.4
p.Y2232C
c.6695A>G
14 papers
NM_032119.4
p.G1148D
c.3443G>A
14 papers
NM_032119.4
p.E3867K
c.11599G>A
13 papers
NM_032119.4
p.V1951I
c.5851G>A
13 papers
NM_032119.4
p.L2004F
c.6012G>C
13 papers
NM_032119.4
p.L2004F
c.6012G>T
13 papers
NM_032119.4
p.N2345S
c.7034A>G
13 papers
NM_032119.4
p.N2584S
c.7751A>G
13 papers
NM_032119.4
p.G3248D
c.9743G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."