Varaico: Literature-Extracted Genetic Variants

Gene:CTSB
Variant:p.R71Splc

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
3 papers
NM_001908.5
p.R71Splc
c.212+2T>C
Surrounding Variants
1 paper
NM_001908.5
p.R71Splc
c.212+1G>A
1 paper
NM_001908.5
p.Q70L
c.209A>T
1 paper
NM_001908.5
p.Q70delFs
c.208delG
1 paper
NM_001908.5
p.P68insFs
c.203_204insC
2 papers
NM_001908.5
p.P68S
c.202C>T
1 paper
NM_001908.5
p.G64_G65delFs
c.190_193del4
1 paper
NM_001908.5
p.G65R
c.193G>C
1 paper
NM_001908.5
p.G65R
c.193G>A
1 paper
NM_001908.5
p.G64delFs
c.191delC
1 paper
NM_001908.5
p.L63delFs
c.187delG
1 paper
NM_001908.5
p.L58_C59delFs
c.174_175delAT
1 paper
NM_001908.5
p.Y54Y
c.162C>T
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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."