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.H2546Y

c.7636C>T

Surrounding Variants

1 paper

NM_032119.4

p.L2542V

c.7624C>G

1 paper

NM_032119.4

p.S2553_L2554ins4

c.7657_7661ins12

1 paper

NM_032119.4

p.S2537delFs

c.7610delG

1 paper

NM_032119.4

p.K2555R

c.7664A>G

1 paper

NM_032119.4

p.E2536*

c.7606G>T

1 paper

NM_032119.4

p.D2535N

c.7603G>A

1 paper

NM_032119.4

p.P2558L

c.7673C>T

1 paper

NM_032119.4

p.G2561V

c.7682G>T

9 papers

NM_032119.4

p.P2528S

c.7582C>T

1 paper

NM_032119.4

p.I2565L

c.7693A>C

4 papers

NM_032119.4

p.I2526V

c.7576A>G

1 paper

NM_032119.4

p.T2567K

c.7700C>A