Varaico: Literature-Extracted Genetic Variants

Gene:CTSE
Variant:p.Q18L

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.Q18L
c.53A>T
Surrounding Variants
1 paper
NM_001910.4
p.S20P
c.58T>C
1 paper
NM_001910.4
p.G15R
c.43G>A
3 papers
NM_001910.4
p.T3M
c.8C>T
1 paper
NM_001910.4
p.K2K
c.6A>G
1 paper
NM_001910.4
p.V24E
c.71T>A
1 paper
NM_001910.4
p.P30S
c.88C>T
1 paper
NM_001910.4
p.P30L
c.89C>T
1 paper
NM_001910.4
p.L36P
c.107T>C
1 paper
NM_001910.4
p.R37W
c.109C>T
2 papers
NM_001910.4
p.R39W
c.115C>T
1 paper
NM_001910.4
p.H49L
c.146A>T
1 paper
NM_001910.4
p.I54F
c.160A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."