Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.Y380Y

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.Y380Y
c.1140T>C
Surrounding Variants
1 paper
NM_001370658.1
p.D381D
c.1143C>T
1 paper
NM_001370658.1
p.M379I
c.1137G>A
1 paper
NM_001370658.1
p.M379I
c.1137G>C
1 paper
NM_001370658.1
p.M379I
c.1137G>T
1 paper
NM_001370658.1
p.N382D
c.1144A>G
1 paper
NM_001370658.1
p.M379L
c.1135A>C
1 paper
NM_001370658.1
p.N382S
c.1145A>G
1 paper
NM_001370658.1
p.M379L
c.1135A>T
3 papers
NM_001370658.1
p.F383V
c.1147T>G
2 papers
NM_001370658.1
p.F383C
c.1148T>G
1 paper
NM_001370658.1
p.T384I
c.1151C>T
1 paper
NM_001370658.1
p.E377*
c.1129G>T
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