Varaico: Literature-Extracted Genetic Variants

Gene:CTSB
Variant:p.W285*

CTSB

265 papers

RefSeq Summary

This gene encodes a member of the C1 family of peptidases. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is pro...

Pfam Domains

Propeptide_C1aa 26–65UCSCPeptidase family C1 propeptide
Peptidase_C1aa 80–329UCSCPapain family cysteine protease

Gene Aliases

HGNC Name

cathepsin B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001908.5
p.W285*
c.854G>A
Surrounding Variants
1 paper
NM_001908.5
p.W285*
c.855G>A
1 paper
NM_001908.5
p.G286*
c.856G>T
1 paper
NM_001908.5
p.I282_W285del4
c.844_854del12
2 papers
NM_001908.5
p.G284V
c.851G>T
1 paper
NM_001908.5
p.E288*
c.862G>T
1 paper
NM_001908.5
p.E288Q
c.862G>C
1 paper
NM_001908.5
p.I280_R281insFs
c.840_841dupCC
1 paper
NM_001908.5
p.R281delFs
c.841delG
1 paper
NM_001908.5
p.R281C
c.841C>T
1 paper
NM_001908.5
p.A279T
c.835G>A
1 paper
NM_001908.5
p.G276_G277delFs
c.827_830del4
1 paper
NM_001908.5
p.M275_G277delFs
c.823_829del7
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."