Varaico: Literature-Extracted Genetic Variants

Gene:CTRL
Variant:p.P80insFs

CTRL

196 papers

RefSeq Summary

This gene encodes a serine-type endopeptidase with chymotrypsin- and elastase-2-like activities. The gene encoding this zymogen is expressed specifically in the pancreas and likely functions as a dige...

Pfam Domains

Trypsinaa 34–257UCSCTrypsin

Gene Aliases

HGNC Name

chymotrypsin like

HGNC Alias Symbol

CTRL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001907.3
p.P80insFs
c.238_239insG
Surrounding Variants
1 paper
NM_001907.3
p.G81S
c.241G>A
1 paper
NM_001907.3
p.Y90insFs
c.268_269insT
1 paper
NM_001907.3
p.R92P
c.275G>C
1 paper
NM_001907.3
p.N95N
c.285C>T
1 paper
NM_001907.3
p.S105A
c.313T>G
2 papers
NM_001907.3
p.R106W
c.316C>T
1 paper
NM_001907.3
p.R106_A107Splc
c.318+1G>A
1 paper
NM_001907.3
p.R106_A107Splc
c.318+5G>A
1 paper
NM_001907.3
p.C76S
c.227G>C
1 paper
NM_001907.3
p.C76S
c.226T>A
1 paper
NM_001907.3
p.H75L
c.224A>T
1 paper
NM_001907.3
p.H75Y
c.223C>T
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