Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.D523G

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.D523G
c.1568A>G
Surrounding Variants
1 paper
NM_001370658.1
p.D523V
c.1568A>T
2 papers
NM_001370658.1
p.D523E
c.1569C>A
2 papers
NM_001370658.1
p.D523E
c.1569C>G
1 paper
NM_001370658.1
p.D523H
c.1567G>C
1 paper
NM_001370658.1
p.R522M
c.1565G>T
4 papers
NM_001370658.1
p.R518H
c.1553G>A
2 papers
NM_001370658.1
p.R518L
c.1553G>T
2 papers
NM_001370658.1
p.R518S
c.1552C>A
7 papers
NM_001370658.1
p.R518C
c.1552C>T
1 paper
NM_001370658.1
p.G517G
c.1551G>T
2 papers
NM_001370658.1
p.G517E
c.1550G>A
1 paper
NM_001370658.1
p.Y516H
c.1546T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."