Varaico: Literature-Extracted Genetic Variants

Gene:CTRL
Variant:p.H75L

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
1 paper
NM_001907.3
p.H75L
c.224A>T
Surrounding Variants
1 paper
NM_001907.3
p.H75Y
c.223C>T
1 paper
NM_001907.3
p.C76S
c.226T>A
1 paper
NM_001907.3
p.C76S
c.227G>C
1 paper
NM_001907.3
p.A74D
c.221C>A
2 papers
NM_001907.3
p.A73T
c.217G>A
1 paper
NM_001907.3
p.I65F
c.193A>T
1 paper
NM_001907.3
p.L64R
c.191T>G
1 paper
NM_001907.3
p.L64P
c.191T>C
1 paper
NM_001907.3
p.L64F
c.190C>T
1 paper
NM_001907.3
p.L64V
c.190C>G
1 paper
NM_001907.3
p.L64I
c.190C>A
1 paper
NM_001907.3
p.G61R
c.181G>C
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