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.T2240A

c.6718A>G

Surrounding Variants

1 paper

NM_032119.4

p.Q2238P

c.6713A>C

1 paper

NM_032119.4

p.L2242V

c.6724C>G

1 paper

NM_032119.4

p.V2244I

c.6730G>A

1 paper

NM_032119.4

p.E2248G

c.6743A>G

1 paper

NM_032119.4

p.P2257_I2258del2

c.6769_6773del6

1 paper

NM_032119.4

p.I2259T

c.6776T>C

2 papers

NM_032119.4

p.R2260*

c.6778C>T

1 paper

NM_032119.4

p.V2270F

c.6808G>T

1 paper

NM_032119.4

p.V2270G

c.6809T>G

1 paper

NM_032119.4

p.Q2271Q

c.6813G>A

1 paper

NM_032119.4

p.W2272R

c.6814T>A

1 paper

NM_032119.4

p.W2272R

c.6814T>C