Varaico: Literature-Extracted Genetic Variants

Gene:CTSB
Variant:p.V133A

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.V133A
c.398T>C
Surrounding Variants
1 paper
NM_001908.5
p.E132K
c.394G>A
1 paper
NM_001908.5
p.A135A
c.405G>C
1 paper
NM_001908.5
p.V129D
c.386T>A
1 paper
NM_001908.5
p.D137D
c.411C>T
1 paper
NM_001908.5
p.T140T
c.420A>C
1 paper
NM_001908.5
p.T125S
c.374C>G
2 papers
NM_001908.5
p.C141*
c.423C>A
1 paper
NM_001908.5
p.T125S
c.373A>T
1 paper
NM_001908.5
p.C122*
c.366C>A
3 papers
NM_001908.5
p.C122Y
c.365G>A
1 paper
NM_001908.5
p.R120W
c.358C>T
1 paper
NM_001908.5
p.C146_G147delFs
c.438_439delCA
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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."