Varaico: Literature-Extracted Genetic Variants

Gene:CTSZ
Variant:p.Q121L

CTSZ

71 papers

RefSeq Summary

The protein encoded by this gene is a lysosomal cysteine proteinase and member of the peptidase C1 family. It exhibits both carboxy-monopeptidase and carboxy-dipeptidase activities. The encoded protei...

Pfam Domains

Peptidase_C1aa 62–295UCSCPapain family cysteine protease

Gene Aliases

HGNC Name

cathepsin Z

HGNC Alias Symbol

CTSX

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001336.4
p.Q121L
c.362A>T
Surrounding Variants
2 papers
NM_001336.4
p.V120M
c.358G>A
1 paper
NM_001336.4
p.V123I
c.367G>A
2 papers
NM_001336.4
p.D125_C126insFs
c.375_376insGA
1 paper
NM_001336.4
p.G127D
c.380G>A
1 paper
NM_001336.4
p.A129T
c.385G>A
1 paper
NM_001336.4
p.G134G
c.402G>A
1 paper
NM_001336.4
p.I105insFs
c.315dupC
2 papers
NM_001336.4
p.E163Splc
c.487+1G>A
1 paper
NM_001336.4
p.C164fs
c.490_491fs
1 paper
NM_001336.4
p.C164_D165delFs
c.492_493delCA
1 paper
NM_001336.4
p.K166R
c.497A>G
1 paper
NM_001336.4
p.R183Q
c.548G>A
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."