Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.G445R

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
3 papers
NM_001370658.1
p.G445R
c.1333G>C
Surrounding Variants
4 papers
NM_001370658.1
p.G445S
c.1333G>A
1 paper
NM_001370658.1
p.G445fs
c.1333_1334fs
1 paper
NM_001370658.1
p.G445C
c.1333G>T
1 paper
NM_001370658.1
p.G445D
c.1334G>A
9 papers
NM_001370658.1
p.G445V
c.1334G>T
1 paper
NM_001370658.1
p.G444E
c.1331G>A
1 paper
NM_001370658.1
p.L446fs
c.1336_1337fs
1 paper
NM_001370658.1
p.L446V
c.1336C>G
2 papers
NM_001370658.1
p.G444R
c.1330G>A
78 papers
NM_001370658.1
p.G444R
c.1330G>C
4 papers
NM_001370658.1
p.L446P
c.1337T>C
1 paper
NM_001370658.1
p.G445insFs
c.1334dupG
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