Varaico: Literature-Extracted Genetic Variants

Gene:CTSL
Variant:p.M77I

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.M77I
c.231G>T
Surrounding Variants
1 paper
NM_001912.5
p.M77I
c.231G>A
1 paper
NM_001912.5
p.M77I
c.231G>C
1 paper
NM_001912.5
p.A79T
c.235G>A
1 paper
NM_001912.5
p.T74T
c.222A>C
1 paper
NM_001912.5
p.F73delFs
c.218_219delTC
1 paper
NM_001912.5
p.H71P
c.212A>C
1 paper
NM_001912.5
p.M83_T84Splc
c.249+2T>C
2 papers
NM_001912.5
p.G69R
c.205G>A
1 paper
NM_001912.5
p.G69R
c.205G>C
1 paper
NM_001912.5
p.Q64P
c.191A>C
1 paper
NM_001912.5
p.H62N
c.184C>A
1 paper
NM_001912.5
p.N55K
c.165C>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."