Varaico: Literature-Extracted Genetic Variants

Gene:CTSE
Variant:p.F79V

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.F79V
c.235T>G
Surrounding Variants
3 papers
NM_001910.4
p.I82V
c.244A>G
1 paper
NM_001910.4
p.D75_M76Splc
c.226-1G>A
1 paper
NM_001910.4
p.I94I
c.282C>T
1 paper
NM_001910.4
p.S100F
c.299C>T
1 paper
NM_001910.4
p.L102F
c.304C>T
1 paper
NM_001910.4
p.V104I
c.310G>A
1 paper
NM_001910.4
p.P105insFs
c.315dupC
1 paper
NM_001910.4
p.I54F
c.160A>T
1 paper
NM_001910.4
p.H49L
c.146A>T
2 papers
NM_001910.4
p.R39W
c.115C>T
1 paper
NM_001910.4
p.R37W
c.109C>T
1 paper
NM_001910.4
p.L36P
c.107T>C
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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."