Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.N182delFs

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
4 papers
NM_001370658.1
p.N182delFs
c.544delA
Surrounding Variants
1 paper
NM_001370658.1
p.N182S
c.545A>G
4 papers
NM_001370658.1
p.N182I
c.545A>T
1 paper
NM_001370658.1
p.G184R
c.550G>A
1 paper
NM_001370658.1
p.G184R
c.550G>C
6 papers
NM_001370658.1
p.V179M
c.535G>A
1 paper
NM_001370658.1
p.V178V
c.534C>G
1 paper
NM_001370658.1
p.V178V
c.534C>T
2 papers
NM_001370658.1
p.V179del1
c.535_536delGTG
1 paper
NM_001370658.1
p.T185T
c.555C>G
2 papers
NM_001370658.1
p.V178_V179del1
c.534_536delCGT
1 paper
NM_001370658.1
p.V187del1
c.559_560delGTT
1 paper
NM_001370658.1
p.L186R
c.557T>G
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