Varaico: Literature-Extracted Genetic Variants

Gene:CTSZ
Variant:p.P51A

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.P51A
c.151C>G
Surrounding Variants
1 paper
NM_001336.4
p.R52W
c.154C>T
2 papers
NM_001336.4
p.S48Splc
c.144-1G>C
1 paper
NM_001336.4
p.Y56D
c.166T>G
1 paper
NM_001336.4
p.K64T
c.191A>C
1 paper
NM_001336.4
p.W68R
c.202T>C
1 paper
NM_001336.4
p.G90A
c.269G>C
1 paper
NM_001336.4
p.C92R
c.274T>C
1 paper
NM_001336.4
p.H95H
c.285C>T
2 papers
NM_001336.4
p.A102V
c.305C>T
2 papers
NM_001336.4
p.D103Splc
c.307+5G>A
1 paper
NM_001336.4
p.R47G
c.139C>G
1 paper
NM_001336.4
p.G46A
c.137G>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."