Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.V179M

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
6 papers
NM_001370658.1
p.V179M
c.535G>A
Surrounding Variants
1 paper
NM_001370658.1
p.V178V
c.534C>G
1 paper
NM_001370658.1
p.V178V
c.534C>T
2 papers
NM_001370658.1
p.V179del1
c.535_536delGTG
2 papers
NM_001370658.1
p.V178_V179del1
c.534_536delCGT
1 paper
NM_001370658.1
p.N177_V178del2
c.529_533del6
2 papers
NM_001370658.1
p.T176R
c.527C>G
4 papers
NM_001370658.1
p.N182delFs
c.544delA
3 papers
NM_001370658.1
p.T176_S181del0
c.528_542del15
1 paper
NM_001370658.1
p.T176fs
c.526_527fs
1 paper
NM_001370658.1
p.T176delFs
c.527delC
1 paper
NM_001370658.1
p.N182S
c.545A>G
4 papers
NM_001370658.1
p.N182I
c.545A>T
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