Varaico: Literature-Extracted Genetic Variants

Gene:BOLA3
Variant:p.R99W

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
4 papers
NM_212552.3
p.R99W
c.295C>T
Surrounding Variants
1 paper
NM_212552.3
p.H96_L98delFs
c.288_294del7
2 papers
NM_212552.3
p.R99Q
c.296G>A
1 paper
NM_212552.3
p.G97insFs
c.291dupA
15 papers
NM_212552.3
p.H96R
c.287A>G
1 paper
NM_212552.3
p.K93R
c.278A>G
1 paper
NM_212552.3
p.R107C
c.319C>T
1 paper
NM_212552.3
p.A87T
c.259G>A
2 papers
NM_212552.3
p.Q86E
c.256C>G
1 paper
NM_212552.3
p.Q82_M83ins8
c.244_248ins24
1 paper
NM_212552.3
p.Q80H
c.240G>T
1 paper
NM_212552.3
p.Q80H
c.240G>C
1 paper
NM_212552.3
p.K75_T77del3
c.223_230del9
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