Varaico: Literature-Extracted Genetic Variants

Gene:CTSB
Variant:p.I239delFs

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.I239delFs
c.715_716delAT
Surrounding Variants
1 paper
NM_001908.5
p.I239insFs
c.717dupC
1 paper
NM_001908.5
p.D238insFs
c.712_713insCG
2 papers
NM_001908.5
p.D238N
c.712G>A
2 papers
NM_001908.5
p.K237del1
c.709_710delCTT
1 paper
NM_001908.5
p.K237fs
c.709_710fs
1 paper
NM_001908.5
p.K237delFs
c.709delT
1 paper
NM_001908.5
p.K237R
c.710A>G
3 papers
NM_001908.5
p.K237E
c.709A>G
3 papers
NM_001908.5
p.S235N
c.704G>A
6 papers
NM_001908.5
p.N246T
c.737A>C
1 paper
NM_001908.5
p.N246delFs
c.737delT
1 paper
NM_001908.5
p.N246delFs
c.736_737delTT
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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."