Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.S299S

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.S299S
c.897C>T
Surrounding Variants
1 paper
NM_001370658.1
p.W301insFs
c.901dupT
1 paper
NM_001370658.1
p.S299S
c.897C>G
3 papers
NM_001370658.1
p.S299F
c.896C>T
1 paper
NM_001370658.1
p.E298E
c.894G>A
1 paper
NM_001370658.1
p.W301_Y302del1
c.902_904delGGT
1 paper
NM_001370658.1
p.W301fs
c.901_902fs
1 paper
NM_001370658.1
p.W301*
c.902G>A
2 papers
NM_001370658.1
p.W301*
c.903G>A
1 paper
NM_001370658.1
p.L297Q
c.890T>A
1 paper
NM_001370658.1
p.Y302*
c.906C>A
1 paper
NM_001370658.1
p.Y302*
c.906C>G
4 papers
NM_001370658.1
p.H303R
c.908A>G
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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."