Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.L426L

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.L426L
c.1278T>C
Surrounding Variants
1 paper
NM_001370658.1
p.H427Y
c.1279C>T
1 paper
NM_001370658.1
p.G425G
c.1275G>T
1 paper
NM_001370658.1
p.G425E
c.1274G>A
2 papers
NM_001370658.1
p.G425V
c.1274G>T
2 papers
NM_001370658.1
p.G425R
c.1273G>A
2 papers
NM_001370658.1
p.G425R
c.1273G>C
1 paper
NM_001370658.1
p.D424G
c.1271A>G
32 papers
NM_001370658.1
p.D424H
c.1270G>C
1 paper
NM_001370658.1
p.V429A
c.1286T>C
1 paper
NM_001370658.1
p.H430_G431del2
c.1288_1292del6
1 paper
NM_001370658.1
p.F423Y
c.1268T>A
1 paper
NM_001370658.1
p.H430P
c.1289A>C
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