Varaico: Literature-Extracted Genetic Variants

Gene:BOLA3
Variant:p.R46*

BOLA3

55 papers

RefSeq Summary

This gene encodes a protein that plays an essential role in the production of iron-sulfur (Fe-S) clusters for the normal maturation of lipoate-containing 2-oxoacid dehydrogenases, and for the assembly...

Pfam Domains

BolAaa 40–107UCSCBolA-like protein

Gene Aliases

HGNC Name

bolA family member 3

HGNC Previous Names

bolA-like 3 (E. coli); bolA homolog 3 (E. coli)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
14 papers
NM_212552.3
p.R46*
c.136C>T
Surrounding Variants
1 paper
NM_212552.3
p.R46Q
c.137G>A
1 paper
NM_212552.3
p.P45T
c.133C>A
8 papers
NM_212552.3
p.K41insFs
c.123dupA
1 paper
NM_212552.3
p.I39_K41delFs
c.115_122del8
5 papers
NM_212552.3
p.E42fs
c.124_125fs
1 paper
NM_212552.3
p.K51del1
c.151_152delTTT
1 paper
NM_212552.3
p.Q38R
c.113A>G
3 papers
NM_212552.3
p.T53insFs
c.159dupT
1 paper
NM_212552.3
p.R35T
c.104G>C
1 paper
NM_212552.3
p.T28fs
c.82_83fs
1 paper
NM_212552.3
p.T28insFs
c.82_83ins8
1 paper
NM_212552.3
p.A27delFs
c.81delG
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