Varaico: Literature-Extracted Genetic Variants

Gene:NDUFA5
Variant:p.E49D

NDUFA5

99 papers

RefSeq Summary

This nuclear gene encodes a conserved protein that comprises the B13 subunit of complex I of the mitochondrial respiratory chain. The encoded protein localizes to the inner mitochondrial membrane, whe...

Pfam Domains

ETC_C1_NDUFA5aa 6–64UCSCETC complex I subunit conserved region

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase subunit A5

HGNC Alias Symbols

B13; NUFM; CI-13KD-B; UQOR13; CI-13kB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_005000.5
p.E49D
c.147A>T
Surrounding Variants
1 paper
NM_005000.5
p.Q50*
c.148C>T
1 paper
NM_005000.5
p.R45*
c.133A>T
1 paper
NM_005000.5
p.K40I
c.119A>T
1 paper
NM_005000.5
p.E36D
c.108G>T
1 paper
NM_005000.5
p.E36D
c.108G>C
1 paper
NM_005000.5
p.E36A
c.107A>C
1 paper
NM_005000.5
p.D33ins2
c.98_99ins6
1 paper
NM_005000.5
p.T29I
c.86C>T
1 paper
NM_005000.5
p.Y28C
c.83A>G
1 paper
NM_005000.5
p.R25S
c.75A>T
1 paper
NM_005000.5
p.R25S
c.75A>C
1 paper
NM_005000.5
p.R25K
c.74G>A
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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."