Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.G292G

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
1 paper
NM_001370658.1
p.G292G
c.876C>A
Surrounding Variants
3 papers
NM_001370658.1
p.I293insFs
c.878dupT
1 paper
NM_001370658.1
p.G292D
c.875G>A
1 paper
NM_001370658.1
p.G292V
c.875G>T
1 paper
NM_001370658.1
p.G292S
c.874G>A
1 paper
NM_001370658.1
p.H294fs
c.880_881fs
3 papers
NM_001370658.1
p.S291delFs
c.873delT
1 paper
NM_001370658.1
p.S291fs
c.871_872fs
1 paper
NM_001370658.1
p.H294R
c.881A>G
1 paper
NM_001370658.1
p.H294L
c.881A>T
1 paper
NM_001370658.1
p.G290G
c.870A>T
1 paper
NM_001370658.1
p.P296delFs
c.887delC
1 paper
NM_001370658.1
p.G290E
c.869G>A
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