Varaico: Literature-Extracted Genetic Variants

Gene:CTRL
Variant:p.S208F

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.S208F
c.623C>T
Surrounding Variants
1 paper
NM_001907.3
p.G204R
c.610G>C
1 paper
NM_001907.3
p.A202S
c.604G>T
1 paper
NM_001907.3
p.C201F
c.602G>T
1 paper
NM_001907.3
p.C201Y
c.602G>A
1 paper
NM_001907.3
p.Y190Y
c.570C>T
1 paper
NM_001907.3
p.Q189E
c.565C>G
1 paper
NM_001907.3
p.Q189K
c.565C>A
1 paper
NM_001907.3
p.N185K
c.555T>A
1 paper
NM_001907.3
p.Q176*
c.526C>T
1 paper
NM_001907.3
p.Q176E
c.526C>G
2 papers
NM_001907.3
p.H173R
c.518A>G
1 paper
NM_001907.3
p.S214A
c.640T>G
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