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

1–12 of 121 variants

6 papers

NM_000730.3

p.E38Splc

c.113-5T>C

4 papers

NM_000730.3

p.C94C

c.282C>T

4 papers

NM_000730.3

p.M195L

c.583A>T

4 papers

NM_000730.3

p.M195L

c.583A>C

4 papers

NM_000730.3

p.H210Y

c.628C>T

3 papers

NM_000730.3

p.R345H

c.1034G>A

3 papers

NM_000730.3

p.V365I

c.1093G>A

3 papers

NM_000730.3

p.C387Y

c.1160G>A

2 papers

NM_000730.3

p.G21R

c.61G>C

2 papers

NM_000730.3

p.G21R

c.61G>A

2 papers

NM_000730.3

p.V56M

c.166G>A

2 papers

NM_000730.3

p.R73Q

c.218G>A