Varaico: Literature-Extracted Genetic Variants

Gene:CTSB
Variant:p.Q334P

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
7 papers
NM_001908.5
p.Q334P
c.1001A>C
Surrounding Variants
1 paper
NM_001908.5
p.R331_Q334delFs
c.991_1000del10
1 paper
NM_001908.5
p.Q334*
c.1000C>T
1 paper
NM_001908.5
p.D333Y
c.997G>T
1 paper
NM_001908.5
p.D333H
c.997G>C
1 paper
NM_001908.5
p.Y335*
c.1005C>G
1 paper
NM_001908.5
p.Y335*
c.1005C>A
1 paper
NM_001908.5
p.W336insFs
c.1006_1007insA
1 paper
NM_001908.5
p.W336*
c.1007G>A
1 paper
NM_001908.5
p.W336*
c.1008G>A
1 paper
NM_001908.5
p.R331H
c.992G>A
1 paper
NM_001908.5
p.E337insFs
c.1009dupG
1 paper
NM_001908.5
p.E324*
c.970G>T
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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."