Varaico: Literature-Extracted Genetic Variants

Gene:CTRL
Variant:p.T135P

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.T135P
c.403A>C
Surrounding Variants
2 papers
NM_001907.3
p.T135I
c.404C>T
1 paper
NM_001907.3
p.A131insFs
c.392_393ins4
2 papers
NM_001907.3
p.A131insFs
c.391_392ins4
1 paper
NM_001907.3
p.S129L
c.386C>T
1 paper
NM_001907.3
p.S129A
c.385T>G
1 paper
NM_001907.3
p.L127H
c.380T>A
2 papers
NM_001907.3
p.S144A
c.430T>G
1 paper
NM_001907.3
p.S144F
c.431C>T
1 paper
NM_001907.3
p.N146Y
c.436A>T
1 paper
NM_001907.3
p.V122E
c.365T>A
1 paper
NM_001907.3
p.N120S
c.359A>G
1 paper
NM_001907.3
p.T150I
c.449C>T
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