Varaico: Literature-Extracted Genetic Variants

Gene:CTSB
Variant:p.K220E

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.K220E
c.658A>G
Surrounding Variants
1 paper
NM_001908.5
p.Q221*
c.661C>T
1 paper
NM_001908.5
p.K220_Q221insFs
c.659_662dup4
1 paper
NM_001908.5
p.P217_Q221del5
c.649_662del15
1 paper
NM_001908.5
p.P217P
c.651G>T
1 paper
NM_001908.5
p.K223*
c.667A>T
1 paper
NM_001908.5
p.Y215*
c.645C>G
1 paper
NM_001908.5
p.Y215*
c.645C>A
1 paper
NM_001908.5
p.H224Q
c.672C>G
1 paper
NM_001908.5
p.H224Q
c.672C>A
1 paper
NM_001908.5
p.G214insFs
c.641_642insT
1 paper
NM_001908.5
p.Y225*
c.675C>G
1 paper
NM_001908.5
p.Y225*
c.675C>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."