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.I2092L

c.6274A>C

Surrounding Variants

1 paper

NM_032119.4

p.R2090H

c.6269G>A

1 paper

NM_032119.4

p.L2083S

c.6248T>C

1 paper

NM_032119.4

p.T2082fs

c.6244_6245fs

1 paper

NM_032119.4

p.T2082_L2083delFs

c.6245_6249del5

2 papers

NM_032119.4

p.E2077K

c.6229G>A

2 papers

NM_032119.4

p.V2074A

c.6221T>C

1 paper

NM_032119.4

p.P2068_S2073delFs

c.6203_6218del16

1 paper

NM_032119.4

p.S2061L

c.6182C>T

1 paper

NM_032119.4

p.S2061delFs

c.6183delA

1 paper

NM_032119.4

p.T2057_L2063del7

c.6169_6188del21

12 papers

NM_032119.4

p.G2045R

c.6133G>A

10 papers

NM_032119.4

p.G2045R

c.6133G>C