Varaico: Literature-Extracted Genetic Variants

Gene:CTSW
Variant:p.C9fs

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.C9fs
c.25_26fs
Surrounding Variants
3 papers
NM_001335.4
p.C9_L11delFs
c.26_33del8
1 paper
NM_001335.4
p.C9_L11del3
c.25_32del9
1 paper
NM_001335.4
p.S8F
c.23C>T
1 paper
NM_001335.4
p.L3_T4del1
c.9_11delGAC
1 paper
NM_001335.4
p.M1T
c.2T>C
1 paper
NM_001335.4
p.I47F
c.139A>T
1 paper
NM_001335.4
p.A60S
c.178G>T
1 paper
NM_001335.4
p.R62H
c.185G>A
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.F99L
c.297T>G
1 paper
NM_001335.4
p.R106Q
c.317G>A
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