Varaico: Literature-Extracted Genetic Variants

Gene:CTSZ
Variant:p.E200E

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.E200E
c.600G>A
Surrounding Variants
2 papers
NM_001336.4
p.L196P
c.587T>C
1 paper
NM_001336.4
p.R183Q
c.548G>A
1 paper
NM_001336.4
p.K166R
c.497A>G
1 paper
NM_001336.4
p.C164_D165delFs
c.492_493delCA
1 paper
NM_001336.4
p.C164fs
c.490_491fs
1 paper
NM_001336.4
p.T226S
c.676A>T
1 paper
NM_001336.4
p.T226S
c.677C>G
1 paper
NM_001336.4
p.Q234*
c.700C>T
1 paper
NM_001336.4
p.T236I
c.707C>T
2 papers
NM_001336.4
p.S244S
c.732T>C
1 paper
NM_001336.4
p.V245M
c.733G>A
2 papers
NM_001336.4
p.W267_G268Splc
c.801+1G>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."