Varaico: Literature-Extracted Genetic Variants

Gene:CTSH
Variant:p.I199_D203delFs

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.I199_D203delFs
c.595_607del13
Surrounding Variants
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.V225I
c.673G>A
1 paper
NM_004390.5
p.F224_V225del0
c.670_675del6
3 papers
NM_004390.5
p.I233_Y234Splc
c.699+1G>A
1 paper
NM_004390.5
p.N177Y
c.529A>T
1 paper
NM_004390.5
p.F176L
c.528C>A
1 paper
NM_004390.5
p.A173V
c.518C>T
1 paper
NM_004390.5
p.V170M
c.508G>A
1 paper
NM_004390.5
p.Q167_Q168ins0
c.499_504dup6
1 paper
NM_004390.5
p.Q168*
c.502C>T
1 paper
NM_004390.5
p.L164_A165Splc
c.492+2T>C
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