Varaico: Literature-Extracted Genetic Variants

Gene:CTSL
Variant:p.V167L

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.V167L
c.499G>C
Surrounding Variants
1 paper
NM_001912.5
p.V167L
c.499G>T
1 paper
NM_001912.5
p.G171G
c.513G>T
2 papers
NM_001912.5
p.M151I
c.453G>A
1 paper
NM_001912.5
p.M151I
c.453G>C
1 paper
NM_001912.5
p.M151I
c.453G>T
1 paper
NM_001912.5
p.L182R
c.545T>G
1 paper
NM_001912.5
p.D184A
c.551A>C
1 paper
NM_001912.5
p.G149G
c.447A>G
1 paper
NM_001912.5
p.G149V
c.446G>T
1 paper
NM_001912.5
p.G149R
c.445G>A
1 paper
NM_001912.5
p.G149R
c.445G>C
1 paper
NM_001912.5
p.E148E
c.444A>G
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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."