Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.N307insFs

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
2 papers
NM_001370658.1
p.N307insFs
c.920dupA
Surrounding Variants
1 paper
NM_001370658.1
p.E306K
c.916G>A
1 paper
NM_001370658.1
p.E306G
c.917A>G
1 paper
NM_001370658.1
p.N307fs
c.919_920fs
1 paper
NM_001370658.1
p.D304E
c.912C>A
1 paper
NM_001370658.1
p.D304E
c.912C>G
1 paper
NM_001370658.1
p.D304G
c.911A>G
4 papers
NM_001370658.1
p.H303R
c.908A>G
1 paper
NM_001370658.1
p.Y302*
c.906C>A
1 paper
NM_001370658.1
p.Y302*
c.906C>G
1 paper
NM_001370658.1
p.S310fs
c.928_929fs
1 paper
NM_001370658.1
p.S310R
c.928A>C
3 papers
NM_001370658.1
p.S310N
c.929G>A
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