Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.V237V

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.V237V
c.711C>T
Surrounding Variants
1 paper
NM_001370658.1
p.V237D
c.710T>A
3 papers
NM_001370658.1
p.V237I
c.709G>A
1 paper
NM_001370658.1
p.L238L
c.714C>T
1 paper
NM_001370658.1
p.I235M
c.705C>G
1 paper
NM_001370658.1
p.Y241del1
c.721_723delTAC
2 papers
NM_001370658.1
p.I235T
c.704T>C
1 paper
NM_001370658.1
p.D240A
c.719A>C
3 papers
NM_001370658.1
p.A234V
c.701C>T
1 paper
NM_001370658.1
p.Y241Y
c.723C>T
1 paper
NM_001370658.1
p.P233P
c.699T>C
1 paper
NM_001370658.1
p.P233L
c.698C>T
1 paper
NM_001370658.1
p.P233S
c.697C>T
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