Varaico: Literature-Extracted Genetic Variants

Gene:CTSE
Variant:p.S221Splc

CTSE

68 papers

RefSeq Summary

This gene encodes a member of the A1 family of peptidases. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is pro...

Pfam Domains

A1_Propeptideaa 23–49UCSCA1 Propeptide
Aspaa 77–394UCSCEukaryotic aspartyl protease

Gene Aliases

HGNC Name

cathepsin E

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001910.4
p.S221Splc
c.663-5T>A
Surrounding Variants
1 paper
NM_001910.4
p.E224G
c.671A>G
1 paper
NM_001910.4
p.A227V
c.680C>T
1 paper
NM_001910.4
p.S244insFs
c.730_731insAA
1 paper
NM_001910.4
p.G267D
c.800G>A
1 paper
NM_001910.4
p.C272Y
c.815G>A
1 paper
NM_001910.4
p.T284S
c.850A>T
1 paper
NM_001910.4
p.T284S
c.851C>G
1 paper
NM_001910.4
p.K293R
c.878A>G
1 paper
NM_001910.4
p.K295*
c.883A>T
1 paper
NM_001910.4
p.A300T
c.898G>A
1 paper
NM_001910.4
p.V312L
c.934G>C
2 papers
NM_001910.4
p.P321S
c.961C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."