Varaico: Literature-Extracted Genetic Variants

Gene:CTSB
Variant:p.F111delFs

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.F111delFs
c.333delG
Surrounding Variants
1 paper
NM_001908.5
p.A110delFs
c.330delG
1 paper
NM_001908.5
p.A110T
c.328G>A
1 paper
NM_001908.5
p.W109_A110Splc
c.328-1G>A
1 paper
NM_001908.5
p.W109_A110Splc
c.328-2A>G
1 paper
NM_001908.5
p.G112_E115delFs
c.336_343del8
1 paper
NM_001908.5
p.A116_I117insT
c.346_350ins3
1 paper
NM_001908.5
p.S118delFs
c.353_354delAG
1 paper
NM_001908.5
p.R120W
c.358C>T
3 papers
NM_001908.5
p.C122Y
c.365G>A
1 paper
NM_001908.5
p.C122*
c.366C>A
1 paper
NM_001908.5
p.T125S
c.373A>T
1 paper
NM_001908.5
p.T125S
c.374C>G
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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."