Varaico: Literature-Extracted Genetic Variants

Gene:CTSV
Variant:p.M77T

CTSV

38 papers

RefSeq Summary

The protein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that may play an important role in corneal physiology. This gene is expressed in colorectal an...

Pfam Domains

Inhibitor_I29aa 29–88UCSCCathepsin propeptide inhibitor domain (I29)
Peptidase_C1aa 114–333UCSCPapain family cysteine protease

Gene Aliases

HGNC Name

cathepsin V

HGNC Previous Symbol

CTSL2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001333.4
p.M77T
c.230T>C
Surrounding Variants
1 paper
NM_001333.4
p.F80Y
c.239T>A
1 paper
NM_001333.4
p.H62R
c.185A>G
1 paper
NM_001333.4
p.K54N
c.162G>T
1 paper
NM_001333.4
p.R96*
c.286C>T
1 paper
NM_001333.4
p.R101T
c.302G>C
1 paper
NM_001333.4
p.V105insFs
c.315dupG
1 paper
NM_001333.4
p.E108E
c.324G>A
1 paper
NM_001333.4
p.S117Y
c.350C>A
1 paper
NM_001333.4
p.A42T
c.124G>A
1 paper
NM_001333.4
p.Q31P
c.92A>C
1 paper
NM_001333.4
p.Q31K
c.91C>A
1 paper
NM_001333.4
p.S16S
c.48C>T
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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."