Varaico: Literature-Extracted Genetic Variants

Gene:CTSV
Variant:p.I246V

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.I246V
c.736A>G
Surrounding Variants
1 paper
NM_001333.4
p.A252S
c.754G>T
1 paper
NM_001333.4
p.A229A
c.687A>T
1 paper
NM_001333.4
p.A229E
c.686C>A
1 paper
NM_001333.4
p.S272N
c.815G>A
2 papers
NM_001333.4
p.G285S
c.853G>A
1 paper
NM_001333.4
p.E192E
c.576G>A
1 paper
NM_001333.4
p.Q173*
c.517C>T
1 paper
NM_001333.4
p.G149V
c.446G>T
1 paper
NM_001333.4
p.A143A
c.429G>T
1 paper
NM_001333.4
p.S117Y
c.350C>A
1 paper
NM_001333.4
p.E108E
c.324G>A
1 paper
NM_001333.4
p.V105insFs
c.315dupG
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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."