Varaico: Literature-Extracted Genetic Variants

Gene:CCK
Variant:p.L14Q

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.L14Q
c.41T>A
Surrounding Variants
2 papers
NM_000729.6
p.L14P
c.41T>C
1 paper
NM_000729.6
p.L14V
c.40C>G
1 paper
NM_000729.6
p.A15T
c.43G>A
1 paper
NM_000729.6
p.A15A
c.45G>A
2 papers
NM_000729.6
p.A16V
c.47C>T
1 paper
NM_000729.6
p.T20K
c.59C>A
1 paper
NM_000729.6
p.Q21insFs
c.62_63insA
1 paper
NM_000729.6
p.C6S
c.17G>C
1 paper
NM_000729.6
p.C6S
c.16T>A
1 paper
NM_000729.6
p.M1T
c.2T>C
2 papers
NM_000729.6
p.L33R
c.98T>G
1 paper
NM_000729.6
p.A36E
c.107C>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."