Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.V187I

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.V187I
c.559G>A
Surrounding Variants
1 paper
NM_001370658.1
p.V187delFs
c.560delT
1 paper
NM_001370658.1
p.L186L
c.558T>A
1 paper
NM_001370658.1
p.V187_L195del9
c.559_584del27
1 paper
NM_001370658.1
p.L186R
c.557T>G
1 paper
NM_001370658.1
p.V187del1
c.559_560delGTT
1 paper
NM_001370658.1
p.D188G
c.563A>G
1 paper
NM_001370658.1
p.T185T
c.555C>G
1 paper
NM_001370658.1
p.D188D
c.564C>T
6 papers
NM_001370658.1
p.R189C
c.565C>T
4 papers
NM_001370658.1
p.R189H
c.566G>A
1 paper
NM_001370658.1
p.G184R
c.550G>A
1 paper
NM_001370658.1
p.G184R
c.550G>C
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