Varaico: Literature-Extracted Genetic Variants

Gene:CCK
Variant:p.H57delFs

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.H57delFs
c.171delG
Surrounding Variants
1 paper
NM_000729.6
p.H57H
c.171C>T
1 paper
NM_000729.6
p.A60V
c.179C>T
1 paper
NM_000729.6
p.Y65N
c.193T>A
1 paper
NM_000729.6
p.D51N
c.151G>A
1 paper
NM_000729.6
p.I66F
c.196A>T
1 paper
NM_000729.6
p.Q68K
c.202C>A
1 paper
NM_000729.6
p.R45R
c.135G>A
1 paper
NM_000729.6
p.K71I
c.212A>T
1 paper
NM_000729.6
p.K71T
c.212A>C
1 paper
NM_000729.6
p.A72T
c.214G>A
1 paper
NM_000729.6
p.L44P
c.131T>C
1 paper
NM_000729.6
p.L44M
c.130C>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."