Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.M288L

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.M288L
c.862A>T
Surrounding Variants
1 paper
NM_001370658.1
p.M288L
c.862A>C
1 paper
NM_001370658.1
p.G287R
c.859G>A
3 papers
NM_001370658.1
p.T289I
c.866C>T
1 paper
NM_001370658.1
p.L286L
c.858G>T
1 paper
NM_001370658.1
p.T289T
c.867A>G
1 paper
NM_001370658.1
p.G290R
c.868G>A
1 paper
NM_001370658.1
p.G290R
c.868G>C
1 paper
NM_001370658.1
p.G290E
c.869G>A
1 paper
NM_001370658.1
p.V285V
c.855T>G
1 paper
NM_001370658.1
p.G290G
c.870A>T
1 paper
NM_001370658.1
p.S291fs
c.871_872fs
1 paper
NM_001370658.1
p.P284P
c.852A>G
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