Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.E64D

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.E64D
c.192G>T
Surrounding Variants
2 papers
NM_001370658.1
p.E64D
c.192G>C
2 papers
NM_001370658.1
p.E64_L65insFs
c.192_193ins4
5 papers
NM_001370658.1
p.E64K
c.190G>A
1 paper
NM_001370658.1
p.L65L
c.195C>T
1 paper
NM_001370658.1
p.M66V
c.196A>G
1 paper
NM_001370658.1
p.L63S
c.188T>C
1 paper
NM_001370658.1
p.L63L
c.187T>C
1 paper
NM_001370658.1
p.M66R
c.197T>G
1 paper
NM_001370658.1
p.A62V
c.185C>T
1 paper
NM_001370658.1
p.L63_L65del0
c.187_195del9
10 papers
NM_001370658.1
p.A62T
c.184G>A
3 papers
NM_001370658.1
p.A62S
c.184G>T
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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."