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.T5899_D5900del2

c.17695_17699del6

Surrounding Variants

1 paper

NM_032119.4

p.R5898L

c.17693G>T

1 paper

NM_032119.4

p.N5906K

c.17718T>A

1 paper

NM_032119.4

p.N5906K

c.17718T>G

3 papers

NM_032119.4

p.M5890fs

c.17668_17669fs

11 papers

NM_032119.4

p.M5890fs

c.17668_17669fs

16 papers

NM_032119.4

p.M5890delFs

c.17668_17669delAT

1 paper

NM_032119.4

p.A5886_S5888del3

c.17656_17663del9

2 papers

NM_032119.4

p.S5912C

c.17735C>G

1 paper

NM_032119.4

p.S5918_G5919delFs

c.17752_17755del4

1 paper

NM_032119.4

p.S5918_G5919del1

c.17753_17755delCAG

13 papers

NM_032119.4

p.V5876I

c.17626G>A

1 paper

NM_032119.4

p.Q5871Q

c.17613G>A