Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.T412T

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.T412T
c.1236C>T
Surrounding Variants
1 paper
NM_001370658.1
p.T412T
c.1236C>A
2 papers
NM_001370658.1
p.S414_Y418del0
c.1241_1252del12
1 paper
NM_001370658.1
p.S414A
c.1240T>G
1 paper
NM_001370658.1
p.K415*
c.1243A>T
1 paper
NM_001370658.1
p.E416delFs
c.1247_1248delAG
2 papers
NM_001370658.1
p.E409_S414Fs
c.1227_1241delinsTTCCAATGGCCFs
1 paper
NM_001370658.1
p.E409A
c.1226A>C
1 paper
NM_001370658.1
p.E409_S414del0
c.1227_1241del15
2 papers
NM_001370658.1
p.E416K
c.1246G>A
1 paper
NM_001370658.1
p.E416fs
c.1246_1247fs
1 paper
NM_001370658.1
p.E409K
c.1225G>A
1 paper
NM_001370658.1
p.Y408Y
c.1224C>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."