Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.L486Q

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.L486Q
c.1457T>A
Surrounding Variants
1 paper
NM_001370658.1
p.E487delFs
c.1459delG
1 paper
NM_001370658.1
p.L486I
c.1456C>A
1 paper
NM_001370658.1
p.L486L
c.1456C>T
5 papers
NM_001370658.1
p.T485T
c.1455C>G
1 paper
NM_001370658.1
p.E487K
c.1459G>A
1 paper
NM_001370658.1
p.T485I
c.1454C>T
1 paper
NM_001370658.1
p.P489delFs
c.1466delC
1 paper
NM_001370658.1
p.P489S
c.1465C>T
1 paper
NM_001370658.1
p.P489fs
c.1465_1466fs
1 paper
NM_001370658.1
p.P489R
c.1466C>G
1 paper
NM_001370658.1
p.G483fs
c.1447_1448fs
1 paper
NM_001370658.1
p.S482S
c.1446A>G
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