Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.V42A

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.V42A
c.125T>C
Surrounding Variants
1 paper
NM_001370658.1
p.Y43_E44del2
c.127_131del6
1 paper
NM_001370658.1
p.V42M
c.124G>A
1 paper
NM_001370658.1
p.A41A
c.123C>T
1 paper
NM_001370658.1
p.E44_H45del2
c.130_134del6
3 papers
NM_001370658.1
p.Y43C
c.128A>G
1 paper
NM_001370658.1
p.Y43Y
c.129T>C
1 paper
NM_001370658.1
p.E44K
c.130G>A
1 paper
NM_001370658.1
p.E44Q
c.130G>C
2 papers
NM_001370658.1
p.A41_E44del4
c.121_131del12
1 paper
NM_001370658.1
p.E44D
c.132G>C
2 papers
NM_001370658.1
p.I48_L49insFs
c.142_145dup4
1 paper
NM_001370658.1
p.E44D
c.132G>T
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