Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.E357*

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
2 papers
NM_001370658.1
p.E357*
c.1069G>T
Surrounding Variants
1 paper
NM_001370658.1
p.Q356Q
c.1068G>A
1 paper
NM_001370658.1
p.Q356H
c.1068G>C
1 paper
NM_001370658.1
p.Q356H
c.1068G>T
1 paper
NM_001370658.1
p.Q356*
c.1066C>T
1 paper
NM_001370658.1
p.H359R
c.1076A>G
1 paper
NM_001370658.1
p.H359H
c.1077C>T
1 paper
NM_001370658.1
p.D361_W366delFs
c.1082_1097del16
1 paper
NM_001370658.1
p.D361fs
c.1081_1082fs
1 paper
NM_001370658.1
p.E352_K353del1
c.1055_1057delAGA
1 paper
NM_001370658.1
p.E362E
c.1086G>A
1 paper
NM_001370658.1
p.C351R
c.1051T>C
3 papers
NM_001370658.1
p.C351delFs
c.1052delG
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