Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.G493G

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.G493G
c.1479C>G
Surrounding Variants
1 paper
NM_001370658.1
p.Q491H
c.1473G>C
1 paper
NM_001370658.1
p.Q491H
c.1473G>T
1 paper
NM_001370658.1
p.N496_D497del2
c.1486_1490del6
1 paper
NM_001370658.1
p.Q491E
c.1471C>G
1 paper
NM_001370658.1
p.D490D
c.1470C>T
1 paper
NM_001370658.1
p.D490N
c.1468G>A
1 paper
NM_001370658.1
p.H498insFs
c.1493dupA
1 paper
NM_001370658.1
p.P489R
c.1466C>G
5 papers
NM_001370658.1
p.H498insFs
c.1493_1494insT
1 paper
NM_001370658.1
p.P489S
c.1465C>T
1 paper
NM_001370658.1
p.P489fs
c.1465_1466fs
4 papers
NM_001370658.1
p.H498_Y499insFs
c.1494_1495insT
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