Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.Q136*

BTD

313 papers

RefSeq Summary

The protein encoded by this gene functions to recycle protein-bound biotin by cleaving biocytin (biotin-epsilon-lysine), a normal product of carboxylase degradation, resulting in regeneration of free ...

Pfam Domains

CN_hydrolaseaa 55–290UCSCCarbon-nitrogen hydrolase

Gene Aliases

HGNC Name

biotinidase

HGNC Alias Names

biotinase; biocytinase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_001370658.1
p.Q136*
c.406C>T
Surrounding Variants
1 paper
NM_001370658.1
p.Q136fs
c.406_407fs
1 paper
NM_001370658.1
p.Q136R
c.407A>G
1 paper
NM_001370658.1
p.L135L
c.405C>G
1 paper
NM_001370658.1
p.Q136_R137insFs
c.408_409insA
3 papers
NM_001370658.1
p.Q136delFs
c.406delC
1 paper
NM_001370658.1
p.R137C
c.409C>T
7 papers
NM_001370658.1
p.R137H
c.410G>A
1 paper
NM_001370658.1
p.V134V
c.402G>A
1 paper
NM_001370658.1
p.R137R
c.411C>A
1 paper
NM_001370658.1
p.R137R
c.411C>T
1 paper
NM_001370658.1
p.V134G
c.401T>G
1 paper
NM_001370658.1
p.E133_V134Splc
c.400-2A>G
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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."