Varaico: Literature-Extracted Genetic Variants

Gene:CTSL
Variant:p.H23Q

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
Selected Variant
1 paper
NM_001912.5
p.H23Q
c.69C>G
Surrounding Variants
1 paper
NM_001912.5
p.H23Q
c.69C>A
1 paper
NM_001912.5
p.H23_S24insFs
c.69_70ins4
1 paper
NM_001912.5
p.D22A
c.65A>C
1 paper
NM_001912.5
p.D22G
c.65A>G
1 paper
NM_001912.5
p.E26K
c.76G>A
2 papers
NM_001912.5
p.L19P
c.56T>C
1 paper
NM_001912.5
p.T30I
c.89C>T
1 paper
NM_001912.5
p.G13A
c.38G>C
1 paper
NM_001912.5
p.A34V
c.101C>T
1 paper
NM_001912.5
p.M35I
c.105G>T
1 paper
NM_001912.5
p.H36Y
c.106C>T
1 paper
NM_001912.5
p.C11S
c.31T>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."