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.R34P

c.101G>C

Surrounding Variants

1 paper

NM_000730.3

p.R34R

c.102T>C

2 papers

NM_000730.3

p.G21R

c.61G>C

2 papers

NM_000730.3

p.G21R

c.61G>A

1 paper

NM_000730.3

p.S12S

c.36C>T

1 paper

NM_000730.3

p.V4D

c.11T>A

1 paper

NM_000730.3

p.M1T

c.2T>C

1 paper

NM_000730.3

p.M1delFs

c.1delT

1 paper

NM_000730.3

p.M1fs

c.1_2fs

1 paper

NM_000730.3

p.E38Splc

c.113-99G>A

1 paper

NM_000730.3

p.E38Splc

c.113-11T>A

6 papers

NM_000730.3

p.E38Splc

c.113-5T>C

1 paper

NM_000730.3

p.E38D

c.114G>T