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.L1189F

c.3565C>T

Surrounding Variants

1 paper

NM_032119.4

p.I1188_L1189delins

c.3564_3566delinsAAG

1 paper

NM_032119.4

p.I1188F

c.3562A>T

3 papers

NM_032119.4

p.I1187V

c.3559A>G

1 paper

NM_032119.4

p.A1191D

c.3572C>A

1 paper

NM_032119.4

p.E1183K

c.3547G>A

2 papers

NM_032119.4

p.M1179L

c.3535A>C

2 papers

NM_032119.4

p.M1179L

c.3535A>T

2 papers

NM_032119.4

p.E1201K

c.3601G>A

1 paper

NM_032119.4

p.V1176A

c.3527T>C

1 paper

NM_032119.4

p.Y1203*

c.3609T>G

1 paper

NM_032119.4

p.Y1170S

c.3509A>C

3 papers

NM_032119.4

p.Y1170C

c.3509A>G