Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.Y248*

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.Y248*
c.744C>A
Surrounding Variants
1 paper
NM_001370658.1
p.Y248*
c.744C>G
1 paper
NM_001370658.1
p.Y248insFs
c.743dupA
1 paper
NM_001370658.1
p.V247V
c.741G>A
1 paper
NM_001370658.1
p.T250A
c.748A>G
1 paper
NM_001370658.1
p.V247L
c.739G>C
1 paper
NM_001370658.1
p.V247L
c.739G>T
1 paper
NM_001370658.1
p.A251S
c.751G>T
1 paper
NM_001370658.1
p.V246D
c.737T>A
1 paper
NM_001370658.1
p.A251A
c.753C>T
1 paper
NM_001370658.1
p.H245R
c.734A>G
2 papers
NM_001370658.1
p.W252G
c.754T>G
1 paper
NM_001370658.1
p.W252*
c.755G>A
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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."