Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.G390R

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.G390R
c.1168G>C
Surrounding Variants
1 paper
NM_001370658.1
p.G390R
c.1168G>A
2 papers
NM_001370658.1
p.W389_Y394Fs
c.1167_1181delinsTTCCAATGGCCFs
1 paper
NM_001370658.1
p.G390G
c.1170A>C
1 paper
NM_001370658.1
p.W389fs
c.1165_1166fs
1 paper
NM_001370658.1
p.V388V
c.1164C>G
1 paper
NM_001370658.1
p.V388V
c.1164C>T
1 paper
NM_001370658.1
p.V388A
c.1163T>C
1 paper
NM_001370658.1
p.P387P
c.1161T>C
1 paper
NM_001370658.1
p.P387S
c.1159C>T
1 paper
NM_001370658.1
p.G393S
c.1177G>A
1 paper
NM_001370658.1
p.G393R
c.1177G>C
1 paper
NM_001370658.1
p.V386V
c.1158C>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."