Varaico: Literature-Extracted Genetic Variants

Gene:CTSB
Variant:p.C9*

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.C9*
c.27C>A
Surrounding Variants
1 paper
NM_001908.5
p.C9delFs
c.27delG
1 paper
NM_001908.5
p.C10S
c.29G>C
1 paper
NM_001908.5
p.S7S
c.21C>T
1 paper
NM_001908.5
p.L12insFs
c.34_35insG
1 paper
NM_001908.5
p.M1_A6del0
c.1_18del18
1 paper
NM_001908.5
p.A6A
c.18C>G
1 paper
NM_001908.5
p.L14W
c.41T>G
1 paper
NM_001908.5
p.Q3P
c.8A>C
1 paper
NM_001908.5
p.Q3insFs
c.7_8ins32
1 paper
NM_001908.5
p.N16S
c.47A>G
1 paper
NM_001908.5
p.W2C
c.6G>C
1 paper
NM_001908.5
p.M1T
c.2T>C
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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."