Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.F230L

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.F230L
c.688T>C
Surrounding Variants
1 paper
NM_001370658.1
p.L229L
c.687G>A
1 paper
NM_001370658.1
p.F230L
c.690C>A
1 paper
NM_001370658.1
p.F230L
c.690C>G
1 paper
NM_001370658.1
p.L229fs
c.685_686fs
1 paper
NM_001370658.1
p.I228M
c.684A>G
1 paper
NM_001370658.1
p.L229delFs
c.686delT
1 paper
NM_001370658.1
p.I228T
c.683T>C
1 paper
NM_001370658.1
p.I228insFs
c.683dupT
1 paper
NM_001370658.1
p.I228L
c.682A>C
2 papers
NM_001370658.1
p.I228V
c.682A>G
1 paper
NM_001370658.1
p.I228L
c.682A>T
1 paper
NM_001370658.1
p.D232N
c.694G>A
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