Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.Y499fs

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.Y499fs
c.1495_1496fs
Surrounding Variants
1 paper
NM_001370658.1
p.Y499C
c.1496A>G
4 papers
NM_001370658.1
p.H498_Y499insFs
c.1494_1495insT
5 papers
NM_001370658.1
p.H498insFs
c.1493_1494insT
1 paper
NM_001370658.1
p.H498insFs
c.1493dupA
1 paper
NM_001370658.1
p.F500C
c.1499T>G
1 paper
NM_001370658.1
p.F500F
c.1500C>T
1 paper
NM_001370658.1
p.L501L
c.1501C>T
1 paper
NM_001370658.1
p.L501delFs
c.1503delG
1 paper
NM_001370658.1
p.R502fs
c.1504_1505fs
1 paper
NM_001370658.1
p.N496_D497del2
c.1486_1490del6
1 paper
NM_001370658.1
p.K503_S504delFs
c.1508_1512del5
1 paper
NM_001370658.1
p.G493G
c.1479C>G
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