Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.L420P

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.L420P
c.1259T>C
Surrounding Variants
2 papers
NM_001370658.1
p.V422delFs
c.1264delG
1 paper
NM_001370658.1
p.L420L
c.1260G>A
1 paper
NM_001370658.1
p.A419A
c.1257C>A
1 paper
NM_001370658.1
p.A419A
c.1257C>T
1 paper
NM_001370658.1
p.A419D
c.1256C>A
1 paper
NM_001370658.1
p.A419S
c.1255G>T
1 paper
NM_001370658.1
p.V422I
c.1264G>A
3 papers
NM_001370658.1
p.V422insFs
c.1264_1265insC
1 paper
NM_001370658.1
p.V422fs
c.1264_1265fs
1 paper
NM_001370658.1
p.Y418*
c.1254T>A
1 paper
NM_001370658.1
p.Y418*
c.1254T>G
1 paper
NM_001370658.1
p.Y418C
c.1253A>G
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