Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.R191H

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.R191H
c.572G>A
Surrounding Variants
5 papers
NM_001370658.1
p.R191C
c.571C>T
2 papers
NM_001370658.1
p.K192_H193ins4
c.574_578ins12
1 paper
NM_001370658.1
p.Y190C
c.569A>G
3 papers
NM_001370658.1
p.H193delFs
c.577delC
1 paper
NM_001370658.1
p.H193fs
c.577_578fs
1 paper
NM_001370658.1
p.H193_N194del1
c.579_581delCAA
4 papers
NM_001370658.1
p.R189H
c.566G>A
6 papers
NM_001370658.1
p.R189C
c.565C>T
1 paper
NM_001370658.1
p.D188D
c.564C>T
5 papers
NM_001370658.1
p.N194S
c.581A>G
1 paper
NM_001370658.1
p.D188G
c.563A>G
2 papers
NM_001370658.1
p.N194K
c.582C>G
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