Varaico: Literature-Extracted Genetic Variants

Gene:CTSL

CTSL

170 papers

RefSeq Summary

The protein encoded by this gene is a lysosomal cysteine proteinase that plays a major role in intracellular protein catabolism. Its substrates include collagen and elastin, as well as alpha-1 proteas...

Pfam Domains

Inhibitor_I29aa 29–88UCSCCathepsin propeptide inhibitor domain (I29)
Peptidase_C1aa 114–332UCSCPapain family cysteine protease

Gene Aliases

HGNC Name

cathepsin L

HGNC Previous Symbol

CTSL1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 103 variants
3 papers
NM_001912.5
p.N2T
c.5A>C
2 papers
NM_001912.5
p.L19P
c.56T>C
2 papers
NM_001912.5
p.G69R
c.205G>A
2 papers
NM_001912.5
p.M151I
c.453G>A
1 paper
NM_001912.5
p.M1_I6del0
c.1_18del18
1 paper
NM_001912.5
p.M1insFs
c.2_3insT
1 paper
NM_001912.5
p.M1T
c.2T>C
1 paper
NM_001912.5
p.M1I
c.3G>A
1 paper
NM_001912.5
p.M1I
c.3G>C
1 paper
NM_001912.5
p.M1I
c.3G>T
1 paper
NM_001912.5
p.T4S
c.10A>T
1 paper
NM_001912.5
p.I6N
c.17T>A
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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."