Varaico: Literature-Extracted Genetic Variants

Gene:CTSB
Variant:p.P94L

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
6 papers
NM_001908.5
p.P94L
c.281C>T
Surrounding Variants
1 paper
NM_001908.5
p.T95I
c.284C>T
1 paper
NM_001908.5
p.T95T
c.285C>T
1 paper
NM_001908.5
p.I96L
c.286A>C
1 paper
NM_001908.5
p.P94_T95delFs
c.282_285del4
1 paper
NM_001908.5
p.Q92R
c.275A>G
1 paper
NM_001908.5
p.Q92*
c.274C>T
1 paper
NM_001908.5
p.K97insFs
c.291dupA
2 papers
NM_001908.5
p.W90*
c.270G>A
1 paper
NM_001908.5
p.W90*
c.269G>A
2 papers
NM_001908.5
p.Q89*
c.265C>T
1 paper
NM_001908.5
p.I99M
c.297C>G
1 paper
NM_001908.5
p.E98_I99del2
c.292_296del6
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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."