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

2 papers

NM_000730.3

p.F130L

c.388T>C

Surrounding Variants

2 papers

NM_000730.3

p.F130L

c.390T>G

2 papers

NM_000730.3

p.F130L

c.390T>A

1 paper

NM_000730.3

p.L132P

c.395T>C

2 papers

NM_000730.3

p.V125A

c.374T>C

2 papers

NM_000730.3

p.S136A

c.406T>G

1 paper

NM_000730.3

p.S124P

c.370T>C

1 paper

NM_000730.3

p.R139I

c.416G>T

1 paper

NM_000730.3

p.Y140F

c.419A>T

2 papers

NM_000730.3

p.G141S

c.421G>A

1 paper

NM_000730.3

p.C144F

c.431G>T

1 paper

NM_000730.3

p.Q148E

c.442C>G

1 paper

NM_000730.3

p.S149A

c.445T>G