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.D3158H

c.9472G>C

Surrounding Variants

3 papers

NM_032119.4

p.I3156V

c.9466A>G

1 paper

NM_032119.4

p.A3155D

c.9464C>A

1 paper

NM_032119.4

p.I3153M

c.9459A>G

1 paper

NM_032119.4

p.C3169C

c.9507C>T

2 papers

NM_032119.4

p.L3171S

c.9512T>C

1 paper

NM_032119.4

p.G3177fs

c.9529_9530fs

1 paper

NM_032119.4

p.A3178S

c.9532G>T

1 paper

NM_032119.4

p.G3181_V3182del2

c.9541_9545del6

1 paper

NM_032119.4

p.Q3194P

c.9581A>C

1 paper

NM_032119.4

p.G3198E

c.9593G>A

1 paper

NM_032119.4

p.S3201I

c.9602G>T

1 paper

NM_032119.4

p.S3203T

c.9607T>A