Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.R518C

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.R518C
c.1552C>T
Surrounding Variants
2 papers
NM_001370658.1
p.R518S
c.1552C>A
4 papers
NM_001370658.1
p.R518H
c.1553G>A
2 papers
NM_001370658.1
p.R518L
c.1553G>T
1 paper
NM_001370658.1
p.G517G
c.1551G>T
2 papers
NM_001370658.1
p.G517E
c.1550G>A
1 paper
NM_001370658.1
p.Y516H
c.1546T>C
1 paper
NM_001370658.1
p.L515P
c.1544T>C
1 paper
NM_001370658.1
p.L515V
c.1543C>G
1 paper
NM_001370658.1
p.L515F
c.1543C>T
1 paper
NM_001370658.1
p.A514V
c.1541C>T
1 paper
NM_001370658.1
p.A513A
c.1539G>A
1 paper
NM_001370658.1
p.R522M
c.1565G>T
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