Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.C13_C15Fs

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
10 papers
NM_001370658.1
p.C13_C15Fs
c.38_44delinsTCCFs
Surrounding Variants
1 paper
NM_001370658.1
p.C13Y
c.38G>A
1 paper
NM_001370658.1
p.C13insFs
c.39dupC
6 papers
NM_001370658.1
p.C13F
c.38G>T
1 paper
NM_001370658.1
p.C13delFs
c.39delC
1 paper
NM_001370658.1
p.G14insFs
c.40dupG
1 paper
NM_001370658.1
p.C13C
c.39C>T
5 papers
NM_001370658.1
p.G14delFs
c.40_41delGG
2 papers
NM_001370658.1
p.G14_C15delFs
c.41_44del4
1 paper
NM_001370658.1
p.C13fs
c.37_38fs
1 paper
NM_001370658.1
p.C13delFs
c.38delG
5 papers
NM_001370658.1
p.C13fs
c.37_38fs
1 paper
NM_001370658.1
p.C13_C15delFs
c.38_44del7
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