Varaico: Literature-Extracted Genetic Variants

Gene:CTSB
Variant:p.P248delFs

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.P248delFs
c.744delG
Surrounding Variants
3 papers
NM_001908.5
p.V249L
c.745G>T
3 papers
NM_001908.5
p.V249L
c.745G>C
1 paper
NM_001908.5
p.E250*
c.748G>T
1 paper
NM_001908.5
p.N246delFs
c.737delT
1 paper
NM_001908.5
p.N246delFs
c.736_737delTT
6 papers
NM_001908.5
p.N246T
c.737A>C
1 paper
NM_001908.5
p.S254P
c.760T>C
3 papers
NM_001908.5
p.S254C
c.761C>G
1 paper
NM_001908.5
p.S254S
c.762T>C
1 paper
NM_001908.5
p.N246_S254del0
c.738_761del24
1 paper
NM_001908.5
p.S254insFs
c.762dupT
1 paper
NM_001908.5
p.V255M
c.763G>A
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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."