Varaico: Literature-Extracted Genetic Variants

Gene:CTSB
Variant:p.K209E

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
2 papers
NM_001908.5
p.K209E
c.625A>G
Surrounding Variants
1 paper
NM_001908.5
p.T204_I210insFs
c.611_630dup20
1 paper
NM_001908.5
p.P205delFs
c.615delG
1 paper
NM_001908.5
p.E201_T204delFs
c.602_611del10
1 paper
NM_001908.5
p.G214insFs
c.641_642insT
1 paper
NM_001908.5
p.G202_D203delFs
c.604_607del4
1 paper
NM_001908.5
p.G202insFs
c.605dupG
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.E201delFs
c.602delT
1 paper
NM_001908.5
p.E201*
c.601G>T
1 paper
NM_001908.5
p.P217P
c.651G>T
1 paper
NM_001908.5
p.C198_T199delFs
c.592_595del4
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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."