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.V311E

c.932T>A

Surrounding Variants

1 paper

NM_000730.3

p.V311M

c.931G>A

1 paper

NM_000730.3

p.K309T

c.926A>C

1 paper

NM_000730.3

p.K308M

c.923A>T

1 paper

NM_000730.3

p.A307D

c.920C>A

1 paper

NM_000730.3

p.I316I

c.948C>T

1 paper

NM_000730.3

p.N304K

c.912C>G

1 paper

NM_000730.3

p.N304K

c.912C>A

1 paper

NM_000730.3

p.N304H

c.910A>C

1 paper

NM_000730.3

p.A303T

c.907G>A

1 paper

NM_000730.3

p.C325*

c.975C>A

1 paper

NM_000730.3

p.N294K

c.882C>G

2 papers

NM_000730.3

p.I329F

c.985A>T