Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.A200A

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.A200A
c.600A>G
Surrounding Variants
1 paper
NM_001370658.1
p.A199A
c.597A>G
1 paper
NM_001370658.1
p.F201F
c.603C>T
2 papers
NM_001370658.1
p.D202N
c.604G>A
1 paper
NM_001370658.1
p.D202H
c.604G>C
4 papers
NM_001370658.1
p.D202V
c.605A>T
11 papers
NM_001370658.1
p.A199T
c.595G>A
2 papers
NM_001370658.1
p.E198D
c.594G>C
2 papers
NM_001370658.1
p.E198D
c.594G>T
1 paper
NM_001370658.1
p.D202E
c.606T>A
1 paper
NM_001370658.1
p.D202E
c.606T>G
1 paper
NM_001370658.1
p.E198G
c.593A>G
2 papers
NM_001370658.1
p.E198_A199del1
c.594_596delGGC
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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."