Varaico: Literature-Extracted Genetic Variants

Gene:CTSB
Variant:p.Y293insFs

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.Y293insFs
c.878_879insTC
Surrounding Variants
1 paper
NM_001908.5
p.Y293_W294insFs
c.879_880ins7
1 paper
NM_001908.5
p.W294*
c.881G>A
1 paper
NM_001908.5
p.W294*
c.882G>A
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.S299insFs
c.896_897insC
1 paper
NM_001908.5
p.W300*
c.899G>A
1 paper
NM_001908.5
p.G286*
c.856G>T
1 paper
NM_001908.5
p.W300*
c.900G>A
1 paper
NM_001908.5
p.I282_W285del4
c.844_854del12
1 paper
NM_001908.5
p.W285*
c.855G>A
1 paper
NM_001908.5
p.W300delFs
c.900delC
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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."