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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NDUFS7

NDUFS7

140 papers

RefSeq Summary

This gene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adeni...

Pfam Domains

Oxidored_q6aa 87–182UCSCNADH ubiquinone oxidoreductase, 20 Kd subunit

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase core subunit S7

HGNC Alias Symbols

PSST; FLJ46880; FLJ45860; CI-20

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 71 variants

39 papers

chr19:1391006 G>A

NM_024407.5

p.V122M

c.364G>A

Oxidored_q6

Exome: 0.0% (AC=125, hom=0)Genome: 0.0% (AC=12, hom=0)4 overlapping SVs

12 papers

chr19:1391144 G>A

NM_024407.5

p.R145H

c.434G>A

Oxidored_q6

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)4 overlapping SVs

8 papers

chr19:1386644 C>G

NM_024407.5

p.A6Splc

c.17-1167C>G

exact variant not in gnomAD5 overlapping SVs

6 papers

chr19:1393290 G>C

NM_024407.5

p.R168S

c.504G>C

Oxidored_q6

Exome: 0.0% (AC=0, hom=0)Genome: 0.0% (AC=6, hom=0)3 overlapping SVs

6 papers

chr19:1393290 G>T

NM_024407.5

p.R168S

c.504G>T

Oxidored_q6

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)3 overlapping SVs

4 papers

chr19:1388539 C>T

NM_024407.5

p.P23L

c.68C>T

Exome: 60.0% (AC=874836, hom=266143)Genome: 52.2% (AC=79373, hom=21647)4 overlapping SVs

4 papers

chr19:1391152 G>A

NM_024407.5

p.V148I

c.442G>A

Oxidored_q6

exact variant not in gnomAD4 overlapping SVs

3 papers

chr19:1383928 T>C

NM_024407.5

p.M1T

c.2T>C

Exome: 0.0% (AC=4, hom=0)Genome: n/a5 overlapping SVs

2 papers

chr19:1388885 C>T

NM_024407.5

p.R59W

c.175C>T

Exome: 0.0% (AC=30, hom=0)Genome: 0.0% (AC=4, hom=0)4 overlapping SVs

2 papers

chr19:1388889 G>A

NM_024407.5

p.G60D

c.179G>A

Exome: 0.0% (AC=7, hom=0)Genome: n/a4 overlapping SVs

2 papers

chr19:1390955 C>T

NM_024407.5

p.R105C

c.313C>T

Oxidored_q6

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

2 papers

chr19:1391045 C>T

NM_024407.5

p.R135C

c.403C>T

Oxidored_q6

Exome: 0.0% (AC=7, hom=0)Genome: n/a4 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."