Varaico: Literature-Extracted Genetic Variants

Gene:CTSE
Variant:p.S118G

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.S118G
c.352A>G
Surrounding Variants
1 paper
NM_001910.4
p.S118C
c.352A>T
1 paper
NM_001910.4
p.R119W
c.355A>T
1 paper
NM_001910.4
p.T116M
c.347C>T
1 paper
NM_001910.4
p.S129T
c.386G>C
1 paper
NM_001910.4
p.G149V
c.446G>T
2 papers
NM_001910.4
p.D151N
c.451G>A
1 paper
NM_001910.4
p.P105insFs
c.315dupC
1 paper
NM_001910.4
p.V104I
c.310G>A
1 paper
NM_001910.4
p.L102F
c.304C>T
1 paper
NM_001910.4
p.S100F
c.299C>T
1 paper
NM_001910.4
p.I94I
c.282C>T
3 papers
NM_001910.4
p.I82V
c.244A>G
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