Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.R189C

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
6 papers
NM_001370658.1
p.R189C
c.565C>T
Surrounding Variants
1 paper
NM_001370658.1
p.D188D
c.564C>T
4 papers
NM_001370658.1
p.R189H
c.566G>A
1 paper
NM_001370658.1
p.D188G
c.563A>G
1 paper
NM_001370658.1
p.Y190C
c.569A>G
5 papers
NM_001370658.1
p.R191C
c.571C>T
1 paper
NM_001370658.1
p.V187I
c.559G>A
1 paper
NM_001370658.1
p.V187delFs
c.560delT
4 papers
NM_001370658.1
p.R191H
c.572G>A
1 paper
NM_001370658.1
p.L186L
c.558T>A
1 paper
NM_001370658.1
p.V187_L195del9
c.559_584del27
1 paper
NM_001370658.1
p.L186R
c.557T>G
2 papers
NM_001370658.1
p.K192_H193ins4
c.574_578ins12
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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."