Varaico: Literature-Extracted Genetic Variants

Gene:CTSZ
Variant:p.M1T

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
3 papers
NM_001336.4
p.M1T
c.2T>C
Surrounding Variants
1 paper
NM_001336.4
p.A2A
c.6G>C
2 papers
NM_001336.4
p.W8delFs
c.23delC
2 papers
NM_001336.4
p.L11_L12insFs
c.33_34ins4
1 paper
NM_001336.4
p.G19A
c.56G>C
3 papers
NM_001336.4
p.G30insFs
c.89_90insG
1 paper
NM_001336.4
p.T32I
c.95C>T
2 papers
NM_001336.4
p.R35delFs
c.103delG
1 paper
NM_001336.4
p.P36S
c.106C>T
1 paper
NM_001336.4
p.P36P
c.108T>C
1 paper
NM_001336.4
p.G46A
c.137G>C
1 paper
NM_001336.4
p.R47G
c.139C>G
2 papers
NM_001336.4
p.S48Splc
c.144-1G>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."