Varaico: Literature-Extracted Genetic Variants

Gene:CTSB
Variant:p.R195_P197insFs

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.R195_P197insFs
c.584_590dup7
Surrounding Variants
1 paper
NM_001908.5
p.P197delFs
c.590delG
1 paper
NM_001908.5
p.C198*
c.594C>A
1 paper
NM_001908.5
p.S194_P196insFs
c.580_586dup7
1 paper
NM_001908.5
p.C198_T199delFs
c.592_595del4
1 paper
NM_001908.5
p.R195W
c.583C>T
1 paper
NM_001908.5
p.E201*
c.601G>T
1 paper
NM_001908.5
p.E201delFs
c.602delT
1 paper
NM_001908.5
p.G193R
c.577G>C
3 papers
NM_001908.5
p.G193S
c.577G>A
1 paper
NM_001908.5
p.N192delFs
c.576delG
1 paper
NM_001908.5
p.N192N
c.576C>T
1 paper
NM_001908.5
p.G202insFs
c.605dupG
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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."