Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.Q60Q

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
1 paper
NM_001370658.1
p.Q60Q
c.180A>G
Surrounding Variants
1 paper
NM_001370658.1
p.Q60P
c.179A>C
1 paper
NM_001370658.1
p.E61K
c.181G>A
1 paper
NM_001370658.1
p.Q60fs
c.178_179fs
1 paper
NM_001370658.1
p.R59R
c.177C>G
2 papers
NM_001370658.1
p.E61E
c.183G>A
10 papers
NM_001370658.1
p.A62T
c.184G>A
1 paper
NM_001370658.1
p.R59H
c.176G>A
3 papers
NM_001370658.1
p.A62S
c.184G>T
1 paper
NM_001370658.1
p.R59_Q60delFs
c.177_178delCC
6 papers
NM_001370658.1
p.R59C
c.175C>T
1 paper
NM_001370658.1
p.A62V
c.185C>T
1 paper
NM_001370658.1
p.L63_L65del0
c.187_195del9
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."