Varaico: Literature-Extracted Genetic Variants

Gene:NDUFA5
Variant:p.E22_R23Splc

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
1 paper
NM_005000.5
p.E22_R23Splc
c.66+28T>C
Surrounding Variants
1 paper
NM_005000.5
p.E22V
c.65A>T
1 paper
NM_005000.5
p.H21Y
c.61C>T
1 paper
NM_005000.5
p.P20L
c.59C>T
1 paper
NM_005000.5
p.T19T
c.57T>A
1 paper
NM_005000.5
p.N18I
c.53A>T
3 papers
NM_005000.5
p.N18Y
c.52A>T
1 paper
NM_005000.5
p.A15T
c.43G>A
1 paper
NM_005000.5
p.L11L
c.33T>A
1 paper
NM_005000.5
p.K7_T8Splc
c.21+138C>G
1 paper
NM_005000.5
p.K6*
c.16A>T
1 paper
NM_005000.5
p.L5M
c.13C>A
1 paper
NM_005000.5
p.A2P
c.4G>C
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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."