Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.F197L

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
2 papers
NM_001370658.1
p.F197L
c.591T>G
Surrounding Variants
2 papers
NM_001370658.1
p.F197L
c.591T>A
1 paper
NM_001370658.1
p.F197F
c.591T>C
1 paper
NM_001370658.1
p.E198G
c.593A>G
2 papers
NM_001370658.1
p.E198_A199del1
c.594_596delGGC
2 papers
NM_001370658.1
p.F197L
c.589T>C
1 paper
NM_001370658.1
p.F197fs
c.589_590fs
1 paper
NM_001370658.1
p.F197Fs
c.589_591delinsAGTAFs
1 paper
NM_001370658.1
p.Y196*
c.588C>A
1 paper
NM_001370658.1
p.Y196*
c.588C>G
1 paper
NM_001370658.1
p.Y196Y
c.588C>T
2 papers
NM_001370658.1
p.E198D
c.594G>C
2 papers
NM_001370658.1
p.E198D
c.594G>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."