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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NDUFA5

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 47 variants

3 papers

chr7:123557418 T>A

NM_005000.5

p.N18Y

c.52A>T

ETC_C1_NDUFA5

exact variant not in gnomAD61 overlapping SVs

2 papers

chr7:123550506 T>A

NM_005000.5

p.E49D

c.147A>T

ETC_C1_NDUFA5

exact variant not in gnomAD64 overlapping SVs

2 papers

chr7:123545666 A>C

NM_005000.5

p.V65G

c.194T>G

ETC_C1_NDUFA5

exact variant not in gnomAD62 overlapping SVs

2 papers

chr7:123545618 A>G

NM_005000.5

p.I81T

c.242T>C

Exome: 0.0% (AC=1, hom=0)Genome: n/a62 overlapping SVs

1 paper

chr7:123557795 T>A

NM_005000.5

p.M1L

c.1A>T

Exome: 0.0% (AC=3, hom=0)Genome: n/a61 overlapping SVs

1 paper

chr7:123557795 T>G

NM_005000.5

p.M1L

c.1A>C

Exome: 0.0% (AC=398, hom=0)Genome: 0.0% (AC=15, hom=0)61 overlapping SVs

1 paper

chr7:123557794 A>G

NM_005000.5

p.M1T

c.2T>C

Exome: 0.0% (AC=1, hom=0)Genome: n/a61 overlapping SVs

1 paper

chr7:123557793 C>G

NM_005000.5

p.M1I

c.3G>C

exact variant not in gnomAD61 overlapping SVs

1 paper

chr7:123557793 C>T

NM_005000.5

p.M1I

c.3G>A

exact variant not in gnomAD61 overlapping SVs

1 paper

chr7:123557792 C>G

NM_005000.5

p.A2P

c.4G>C

Exome: 0.0% (AC=1, hom=0)Genome: n/a61 overlapping SVs

1 paper

chr7:123557783 G>T

NM_005000.5

p.L5M

c.13C>A

exact variant not in gnomAD61 overlapping SVs

1 paper

chr7:123557780 T>A

NM_005000.5

p.K6*

c.16A>T

ETC_C1_NDUFA5

exact variant not in gnomAD61 overlapping SVs

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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."