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.E2504D

c.7512G>C

Surrounding Variants

1 paper

NM_032119.4

p.E2504D

c.7512G>T

1 paper

NM_032119.4

p.Y2503C

c.7508A>G

1 paper

NM_032119.4

p.Q2509*

c.7525C>T

1 paper

NM_032119.4

p.Q2514E

c.7540C>G

1 paper

NM_032119.4

p.G2495S

c.7483G>A

1 paper

NM_032119.4

p.S2491F

c.7472C>T

1 paper

NM_032119.4

p.L2492_F2493del2

c.7474_7478del6

1 paper

NM_032119.4

p.S2491P

c.7471T>C

3 papers

NM_032119.4

p.A2490T

c.7468G>A

1 paper

NM_032119.4

p.A2520delFs

c.7560delA

2 papers

NM_032119.4

p.V2489L

c.7465G>C

2 papers

NM_032119.4

p.V2489L

c.7465G>T