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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NDUFV3

NDUFV3

67 papers

RefSeq Summary

The protein encoded by this gene is one of at least forty-one subunits that make up the NADH-ubiquinone oxidoreductase complex. This complex is part of the mitochondrial respiratory chain and serves t...

Pfam Domains

NDUFV3aa 67–101UCSCNADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase subunit V3

HGNC Alias Symbol

CI-10k

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 66 variants

8 papers

chr21:42903610 C>T

NM_021075.4

p.R200*

c.598C>T

Exome: 6.1% (AC=88890, hom=2968)Genome: 4.8% (AC=7316, hom=232)9 overlapping SVs

6 papers

chr21:42897046 A>C

NM_021075.4

p.K56N

c.168A>C

Exome: 0.6% (AC=8434, hom=34)Genome: 0.5% (AC=709, hom=3)11 overlapping SVs

6 papers

chr21:42897046 A>T

NM_021075.4

p.K56N

c.168A>T

exact variant not in gnomAD11 overlapping SVs

3 papers

chr21:42896955 G>A

NM_021075.4

p.R26Q

c.77G>A

Exome: 0.1% (AC=2114, hom=4)Genome: 0.1% (AC=110, hom=1)11 overlapping SVs

3 papers

chr21:42903838 G>A

NM_021075.4

p.E276K

c.826G>A

Exome: 0.0% (AC=17, hom=0)Genome: 0.0% (AC=27, hom=0)9 overlapping SVs

2 papers

chr21:42893344 C>G

NM_021075.4

p.P4R

c.11C>G

Exome: 0.2% (AC=2557, hom=2)Genome: 0.1% (AC=213, hom=0)10 overlapping SVs

2 papers

chr21:42903320 G>A

NM_021075.4

p.G103D

c.308G>A

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

2 papers

chr21:42904247 C>T

NM_021075.4

p.A412V

c.1235C>T

Exome: 0.0% (AC=330, hom=1)Genome: 0.0% (AC=29, hom=0)9 overlapping SVs

2 papers

chr21:42904255 G>A

NM_021075.4

p.D415N

c.1243G>A

Exome: 59.7% (AC=867304, hom=262537)Genome: 60.3% (AC=91739, hom=28444)9 overlapping SVs

1 paper

chr21:42893335 T>C

NM_021075.4

p.M1T

c.2T>C

Exome: 0.0% (AC=0, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr21:42893336 G>A

NM_021075.4

p.M1I

c.3G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr21:42896985 C>G

NM_021075.4

p.A36G

c.107C>G

Exome: 0.0% (AC=0, hom=0)Genome: n/a11 overlapping SVs

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