Varaico: Literature-Extracted Genetic Variants

Gene:CTSB
Variant:p.C146_G147delFs

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.C146_G147delFs
c.438_439delCA
Surrounding Variants
1 paper
NM_001908.5
p.D148Y
c.442G>T
1 paper
NM_001908.5
p.D148N
c.442G>A
2 papers
NM_001908.5
p.D148D
c.444C>T
1 paper
NM_001908.5
p.G149Splc
c.446+1G>T
1 paper
NM_001908.5
p.G149Splc
c.446+1G>A
1 paper
NM_001908.5
p.G149Splc
c.446+2T>G
1 paper
NM_001908.5
p.G149Splc
c.446+9G>C
2 papers
NM_001908.5
p.C141*
c.423C>A
1 paper
NM_001908.5
p.T140T
c.420A>C
1 paper
NM_001908.5
p.G149Splc
c.446+20C>T
1 paper
NM_001908.5
p.D137D
c.411C>T
1 paper
NM_001908.5
p.A135A
c.405G>C
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