Varaico: Literature-Extracted Genetic Variants

Gene:CTSB
Variant:p.T75A

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.T75A
c.223A>G
Surrounding Variants
1 paper
NM_001908.5
p.M73_F74delFs
c.217_221del5
1 paper
NM_001908.5
p.M73I
c.219G>A
1 paper
NM_001908.5
p.M73L
c.217A>T
1 paper
NM_001908.5
p.M73L
c.217A>C
1 paper
NM_001908.5
p.E76_D77del2
c.226_230del6
1 paper
NM_001908.5
p.L78delFs
c.232delG
1 paper
NM_001908.5
p.R71Splc
c.213-1G>C
1 paper
NM_001908.5
p.R71Splc
c.213-1G>A
1 paper
NM_001908.5
p.P81L
c.242C>T
1 paper
NM_001908.5
p.A82V
c.245C>T
1 paper
NM_001908.5
p.F84Y
c.251T>A
1 paper
NM_001908.5
p.E88Q
c.262G>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."