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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NDUFA7

NDUFA7

32 papers

RefSeq Summary

This gene encodes a subunit of NADH:ubiquinone oxidoreductase (complex I), which is a multiprotein complex located in the inner mitochondrial membrane. Complex I functions in the transfer of electrons...

Pfam Domains

CI-B14_5aaa 5–102UCSCNADH:ubiquinone oxidoreductase subunit B14.5a (Complex I-B14.5a)

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase subunit A7

HGNC Alias Symbol

B14.5a

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 26 variants

5 papers

chr19:8316551 G>C

NM_005001.5

p.P66A

c.196C>G

CI-B14_5a

Exome: 0.2% (AC=2866, hom=85)Genome: 0.3% (AC=387, hom=19)11 overlapping SVs

2 papers

chr19:8321356 C>T

NM_005001.5

p.M1I

c.3G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a9 overlapping SVs

2 papers

chr19:8321342 C>T

NM_005001.5

p.R6H

c.17G>A

CI-B14_5a

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=1, hom=0)9 overlapping SVs

2 papers

chr19:8316605 T>G

NM_005001.5

p.K48Q

c.142A>C

CI-B14_5a

Exome: 1.3% (AC=19436, hom=190)Genome: 0.9% (AC=1402, hom=13)11 overlapping SVs

1 paper

chr19:8321358 T>C

NM_005001.5

p.M1V

c.1A>G

Exome: 0.0% (AC=16, hom=0)Genome: 0.0% (AC=5, hom=0)9 overlapping SVs

1 paper

chr19:8321350 G>C

NM_005001.5

p.S3S

c.9C>G

Exome: 0.0% (AC=1, hom=0)Genome: n/a9 overlapping SVs

1 paper

chr19:8321337 T>A

NM_005001.5

p.I8F

c.22A>T

CI-B14_5a

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=1, hom=0)9 overlapping SVs

1 paper

chr19:8321333 T>G

NM_005001.5

p.Q9P

c.26A>C

CI-B14_5a

exact variant not in gnomAD9 overlapping SVs

1 paper

chr19:8321309 C>G

NM_005001.5

p.G17A

c.50G>C

CI-B14_5a

Exome: 0.0% (AC=1, hom=0)Genome: n/a9 overlapping SVs

1 paper

chr19:8320906 G>A

NM_005001.5

p.H18Y

c.52C>T

CI-B14_5a

exact variant not in gnomAD9 overlapping SVs

1 paper

chr19:8320905 T>C

NM_005001.5

p.H18R

c.53A>G

CI-B14_5a

Exome: 0.0% (AC=1, hom=0)Genome: n/a9 overlapping SVs

1 paper

chr19:8320891 T>TC

NM_005001.5

p.G22insFs

c.66dupG

CI-B14_5a

exact variant not in gnomAD9 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."