Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.Y434C

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
7 papers
NM_001370658.1
p.Y434C
c.1301A>G
Surrounding Variants
1 paper
NM_001370658.1
p.Y434D
c.1300T>G
1 paper
NM_001370658.1
p.I435F
c.1303A>T
1 paper
NM_001370658.1
p.Y433*
c.1299C>A
1 paper
NM_001370658.1
p.Y433*
c.1299C>G
1 paper
NM_001370658.1
p.Y433S
c.1298A>C
1 paper
NM_001370658.1
p.Y433insFs
c.1298dupA
13 papers
NM_001370658.1
p.Q436H
c.1308A>C
11 papers
NM_001370658.1
p.Q436H
c.1308A>T
2 papers
NM_001370658.1
p.V437M
c.1309G>A
2 papers
NM_001370658.1
p.V437L
c.1309G>C
2 papers
NM_001370658.1
p.V437L
c.1309G>T
1 paper
NM_001370658.1
p.G431D
c.1292G>A
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