Varaico: Literature-Extracted Genetic Variants

Gene:CCKAR
Variant:p.S208A

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.S208A
c.622T>G
Surrounding Variants
1 paper
NM_000730.3
p.S208T
c.622T>A
1 paper
NM_000730.3
p.Q206R
c.617A>G
1 paper
NM_000730.3
p.M205L
c.613A>T
1 paper
NM_000730.3
p.M205L
c.613A>C
1 paper
NM_000730.3
p.N202S
c.605A>G
1 paper
NM_000730.3
p.L199R
c.596T>G
1 paper
NM_000730.3
p.F198L
c.594T>G
1 paper
NM_000730.3
p.F198L
c.594T>A
1 paper
NM_000730.3
p.F198L
c.592T>C
4 papers
NM_000730.3
p.M195L
c.583A>T
4 papers
NM_000730.3
p.M195L
c.583A>C
1 paper
NM_000730.3
p.F185I
c.553T>A
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