Varaico: Literature-Extracted Genetic Variants

Gene:CTSB
Variant:p.S27*

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.S27*
c.80C>A
Surrounding Variants
1 paper
NM_001908.5
p.S27S
c.81G>A
1 paper
NM_001908.5
p.L26delFs
c.76_77delAG
1 paper
NM_001908.5
p.L26delFs
c.76delG
42 papers
NM_001908.5
p.L26V
c.76C>G
1 paper
NM_001908.5
p.L26M
c.76C>A
2 papers
NM_001908.5
p.P25L
c.74C>T
2 papers
NM_001908.5
p.E29V
c.86A>T
2 papers
NM_001908.5
p.E29A
c.86A>C
1 paper
NM_001908.5
p.F23_H24insFs
c.69_70ins4
1 paper
NM_001908.5
p.F23I
c.67T>A
2 papers
NM_001908.5
p.Y33F
c.98A>T
1 paper
NM_001908.5
p.Y33insFs
c.98dupA
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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."