Varaico: Literature-Extracted Genetic Variants

Gene:CTSB
Variant:p.S53G

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
17 papers
NM_001908.5
p.S53G
c.157A>G
Surrounding Variants
1 paper
NM_001908.5
p.H45_M52del8
c.133_155del24
1 paper
NM_001908.5
p.Y54H
c.160T>C
1 paper
NM_001908.5
p.M52V
c.154A>G
1 paper
NM_001908.5
p.Y54Y
c.162C>T
1 paper
NM_001908.5
p.Y54*
c.162C>G
1 paper
NM_001908.5
p.Y54*
c.162C>A
1 paper
NM_001908.5
p.Y48C
c.143A>G
1 paper
NM_001908.5
p.F47F
c.141C>T
1 paper
NM_001908.5
p.L58_C59delFs
c.174_175delAT
1 paper
NM_001908.5
p.N46delFs
c.137delT
1 paper
NM_001908.5
p.A43A
c.129C>T
1 paper
NM_001908.5
p.A43T
c.127G>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."