Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.D31fs

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.D31fs
c.91_92fs
Surrounding Variants
1 paper
NM_001370658.1
p.D31delFs
c.91_92delGA
1 paper
NM_001370658.1
p.H32Y
c.94C>T
1 paper
NM_001370658.1
p.A30S
c.88G>T
1 paper
NM_001370658.1
p.V29V
c.87G>T
1 paper
NM_001370658.1
p.H32H
c.96T>C
2 papers
NM_001370658.1
p.H33_A35delFs
c.98_104del7
25 papers
NM_001370658.1
p.H33_A35Fs
c.98_104delinsTCCFs
1 paper
NM_001370658.1
p.V29insFs
c.86_87dupTG
1 paper
NM_001370658.1
p.S28S
c.84C>T
4 papers
NM_001370658.1
p.H33H
c.99C>T
1 paper
NM_001370658.1
p.E34delFs
c.100delG
1 paper
NM_001370658.1
p.S28delFs
c.84delC
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