Varaico: Literature-Extracted Genetic Variants

Gene:CCK
Variant:p.S93R

CCK

192 papers

RefSeq Summary

This gene encodes a member of the gastrin/cholecystokinin family of proteins. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the peptide hormon...

Pfam Domains

Gastrinaa 3–115UCSCGastrin/cholecystokinin family

Gene Aliases

HGNC Name

cholecystokinin

HGNC Alias Names

prepro-cholecystokinin; cholecystokinin triacontatriapeptide

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000729.6
p.S93R
c.279T>G
Surrounding Variants
1 paper
NM_000729.6
p.S93R
c.279T>A
1 paper
NM_000729.6
p.S93R
c.277A>C
4 papers
NM_000729.6
p.D94D
c.282C>T
1 paper
NM_000729.6
p.D94E
c.282C>G
2 papers
NM_000729.6
p.R95W
c.283C>T
1 paper
NM_000729.6
p.R91S
c.273G>C
1 paper
NM_000729.6
p.Y97_M98insFs
c.291_292insG
1 paper
NM_000729.6
p.S89R
c.265A>C
1 paper
NM_000729.6
p.L83M
c.247C>A
1 paper
NM_000729.6
p.R106C
c.316C>T
1 paper
NM_000729.6
p.S107C
c.319A>T
1 paper
NM_000729.6
p.V80I
c.238G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."