Varaico: Literature-Extracted Genetic Variants

Gene:CTSB
Variant:p.R314*

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.R314*
c.940A>T
Surrounding Variants
1 paper
NM_001908.5
p.R314insFs
c.940dupA
1 paper
NM_001908.5
p.L313V
c.937C>G
1 paper
NM_001908.5
p.K311_I312delFs
c.932_936del5
1 paper
NM_001908.5
p.K311_I312delFs
c.933_934delTT
2 papers
NM_001908.5
p.D317N
c.949G>A
1 paper
NM_001908.5
p.R314_Q316delFs
c.942_948del7
1 paper
NM_001908.5
p.C319S
c.955T>A
1 paper
NM_001908.5
p.C319S
c.956G>C
1 paper
NM_001908.5
p.G308Splc
c.923-1G>A
1 paper
NM_001908.5
p.S323insFs
c.968dupC
1 paper
NM_001908.5
p.E324*
c.970G>T
1 paper
NM_001908.5
p.R331H
c.992G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."