Varaico: Literature-Extracted Genetic Variants

Gene:CTSW
Variant:p.A109V

CTSW

32 papers

RefSeq Summary

The protein encoded by this gene, a member of the peptidase C1 family, is a cysteine proteinase that may have a specific function in the mechanism or regulation of T-cell cytolytic activity. The encod...

Pfam Domains

Inhibitor_I29aa 42–99UCSCCathepsin propeptide inhibitor domain (I29)
Peptidase_C1aa 128–362UCSCPapain family cysteine protease

Gene Aliases

HGNC Name

cathepsin W

HGNC Previous Name

cathepsin W (lymphopain)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001335.4
p.A109V
c.326C>T
Surrounding Variants
1 paper
NM_001335.4
p.G110R
c.328G>A
1 paper
NM_001335.4
p.A108delFs
c.324delA
1 paper
NM_001335.4
p.R106Q
c.317G>A
1 paper
NM_001335.4
p.F99L
c.297T>G
1 paper
NM_001335.4
p.E98D
c.294G>C
1 paper
NM_001335.4
p.F99delFs
c.297delT
1 paper
NM_001335.4
p.E125*
c.373G>T
3 papers
NM_001335.4
p.S139G
c.415A>G
1 paper
NM_001335.4
p.Q147_K148Splc
c.442-22G>A
1 paper
NM_001335.4
p.A158V
c.473C>T
1 paper
NM_001335.4
p.I162L
c.484A>C
1 paper
NM_001335.4
p.I162L
c.484A>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."