Varaico: Literature-Extracted Genetic Variants

Gene:CTRL
Variant:p.R242delFs

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.R242delFs
c.725delC
Surrounding Variants
1 paper
NM_001907.3
p.N240_V241insFs
c.720_721insT
1 paper
NM_001907.3
p.C239insFs
c.715_716insT
1 paper
NM_001907.3
p.C239Y
c.716G>A
1 paper
NM_001907.3
p.T236_V246del11
c.706_737del33
1 paper
NM_001907.3
p.N238_C239insG
c.712_716ins3
1 paper
NM_001907.3
p.T248S
c.742A>T
1 paper
NM_001907.3
p.G235S
c.703G>A
1 paper
NM_001907.3
p.K252R
c.755A>G
2 papers
NM_001907.3
p.V232L
c.694G>C
1 paper
NM_001907.3
p.V232I
c.694G>A
1 paper
NM_001907.3
p.V246_S254del0
c.738_761del24
1 paper
NM_001907.3
p.V227E
c.680T>A
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