Varaico: Literature-Extracted Genetic Variants

Gene:CTSH
Variant:p.A67T

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.A67T
c.199G>A
Surrounding Variants
1 paper
NM_004390.5
p.H52fs
c.154_155fs
1 paper
NM_004390.5
p.H52delFs
c.154delG
1 paper
NM_004390.5
p.E49K
c.145G>A
1 paper
NM_004390.5
p.S47R
c.141T>A
1 paper
NM_004390.5
p.K41_H42Splc
c.124-336G>A
1 paper
NM_004390.5
p.A78_L79insFs
c.234_235insAA
1 paper
NM_004390.5
p.A88insFs
c.264dupT
1 paper
NM_004390.5
p.H92Q
c.276C>G
1 paper
NM_004390.5
p.H92Q
c.276C>A
1 paper
NM_004390.5
p.T105A
c.313A>G
1 paper
NM_004390.5
p.G126R
c.376G>C
1 paper
NM_004390.5
p.G126R
c.376G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."