Varaico: Literature-Extracted Genetic Variants

Gene:CTSH
Variant:p.F224_V225del0

CTSH

96 papers

RefSeq Summary

The protein encoded by this gene is a lysosomal cysteine proteinase important in the overall degradation of lysosomal proteins. It is composed of a dimer of disulfide-linked heavy and light chains, bo...

Pfam Domains

Inhibitor_I29aa 1–52UCSCCathepsin propeptide inhibitor domain (I29)
Peptidase_C1aa 78–294UCSCPapain family cysteine protease

Gene Aliases

HGNC Name

cathepsin H

HGNC Previous Symbol

CPSB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004390.5
p.F224_V225del0
c.670_675del6
Surrounding Variants
1 paper
NM_004390.5
p.V225I
c.673G>A
3 papers
NM_004390.5
p.I233_Y234Splc
c.699+1G>A
1 paper
NM_004390.5
p.I199_D203delFs
c.595_607del13
1 paper
NM_004390.5
p.F190S
c.569T>C
1 paper
NM_004390.5
p.Q188R
c.563A>G
1 paper
NM_004390.5
p.Y234_D235insAA
c.700_704ins6
1 paper
NM_004390.5
p.M239V
c.715A>G
1 paper
NM_004390.5
p.M239I
c.717G>T
1 paper
NM_004390.5
p.M239I
c.717G>C
1 paper
NM_004390.5
p.M239I
c.717G>A
2 papers
NM_004390.5
p.V249G
c.746T>G
1 paper
NM_004390.5
p.V255V
c.765G>C
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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."