Varaico: Literature-Extracted Genetic Variants

Gene:CTSW
Variant:p.R186H

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.R186H
c.557G>A
Surrounding Variants
1 paper
NM_001335.4
p.S207Splc
c.619+1G>A
1 paper
NM_001335.4
p.D175D
c.525T>C
1 paper
NM_001335.4
p.W166*
c.498G>A
1 paper
NM_001335.4
p.W166*
c.497G>A
1 paper
NM_001335.4
p.I162L
c.484A>C
1 paper
NM_001335.4
p.I162L
c.484A>T
1 paper
NM_001335.4
p.A158V
c.473C>T
1 paper
NM_001335.4
p.Q147_K148Splc
c.442-22G>A
1 paper
NM_001335.4
p.Y231C
c.692A>G
1 paper
NM_001335.4
p.I237M
c.711C>G
3 papers
NM_001335.4
p.S139G
c.415A>G
1 paper
NM_001335.4
p.E125*
c.373G>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."