Varaico: Literature-Extracted Genetic Variants

CCKAR

108 papers

RefSeq Summary

This gene encodes a G-protein coupled receptor that binds non-sulfated members of the cholecystokinin (CCK) family of peptide hormones. This receptor is a major physiologic mediator of pancreatic enzy...

Pfam Domains

CholecysA-Rec_Naa 1–47UCSCCholecystokinin A receptor, N-terminal

7tm_1aa 58–370UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

cholecystokinin A receptor

HGNC Alias Symbols

CCK1R; CCK-AR; CCK-1R

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000730.3

p.A334D

c.1001C>A

Surrounding Variants

1 paper

NM_000730.3

p.S331S

c.993C>T

1 paper

NM_000730.3

p.F330Y

c.989T>A

2 papers

NM_000730.3

p.I329F

c.985A>T

1 paper

NM_000730.3

p.I329V

c.985A>G

1 paper

NM_000730.3

p.C325*

c.975C>A

1 paper

NM_000730.3

p.R345C

c.1033C>T

3 papers

NM_000730.3

p.R345H

c.1034G>A

1 paper

NM_000730.3

p.R346H

c.1037G>A

1 paper

NM_000730.3

p.I316I

c.948C>T

1 paper

NM_000730.3

p.L356H

c.1067T>A

1 paper

NM_000730.3

p.V311E

c.932T>A

1 paper

NM_000730.3

p.V311M

c.931G>A