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.E3216K

c.9646G>A

Surrounding Variants

5 papers

NM_032119.4

p.E3215K

c.9643G>A

7 papers

NM_032119.4

p.A3217V

c.9650C>T

1 paper

NM_032119.4

p.I3214I

c.9642C>T

1 paper

NM_032119.4

p.S3211P

c.9631T>C

3 papers

NM_032119.4

p.R3227*

c.9679C>T

1 paper

NM_032119.4

p.R3227Q

c.9680G>A

1 paper

NM_032119.4

p.G3230D

c.9689G>A

2 papers

NM_032119.4

p.A3234V

c.9701C>T

1 paper

NM_032119.4

p.A3246G

c.9737C>G

13 papers

NM_032119.4

p.G3248D

c.9743G>A

1 paper

NM_032119.4

p.R3250K

c.9749G>A

1 paper

NM_032119.4

p.R3208Splc

c.9623+3A>C