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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NDUFB5

NDUFB5

25 papers

RefSeq Summary

The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial ...

Pfam Domains

NDUF_B5aa 1–189UCSCNADH:ubiquinone oxidoreductase, NDUFB5/SGDH subunit

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase subunit B5

HGNC Alias Symbols

SGDH; CI-SGDH; MGC12314

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 25 variants

6 papers

chr3:179618469 T>C

NM_002492.4

p.Y133H

c.397T>C

NDUF_B5

Exome: 0.0% (AC=343, hom=2)Genome: 0.0% (AC=34, hom=0)44 overlapping SVs

3 papers

chr3:179604915 A>C

NM_002492.4

p.T34P

c.100A>C

NDUF_B5

Exome: 0.9% (AC=13214, hom=78)Genome: 0.8% (AC=1216, hom=6)45 overlapping SVs

2 papers

chr3:179604818 G>A

NM_002492.4

p.M1I

c.3G>A

NDUF_B5

exact variant not in gnomAD44 overlapping SVs

2 papers

chr3:179604891 C>T

NM_002492.4

p.R26C

c.76C>T

NDUF_B5

Exome: 0.0% (AC=17, hom=0)Genome: n/a45 overlapping SVs

1 paper

chr3:179604824 C>G

NM_002492.4

p.A3A

c.9C>G

NDUF_B5

Exome: 0.0% (AC=1, hom=0)Genome: n/a44 overlapping SVs

1 paper

chr3:179604835 T>G

NM_002492.4

p.L7W

c.20T>G

NDUF_B5

exact variant not in gnomAD44 overlapping SVs

1 paper

chr3:179604841 G>A

NM_002492.4

p.R9Q

c.26G>A

NDUF_B5

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=1, hom=0)44 overlapping SVs

1 paper

chr3:179604856 C>T

NM_002492.4

p.A14V

c.41C>T

NDUF_B5

Exome: 0.0% (AC=3, hom=0)Genome: n/a45 overlapping SVs

1 paper

chr3:179604894 C>T

NM_002492.4

p.L27F

c.79C>T

NDUF_B5

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)45 overlapping SVs

1 paper

chr3:179604938 T>C

NM_002492.4

p.A41A

c.123T>C

NDUF_B5

Exome: 0.0% (AC=2, hom=0)Genome: n/a45 overlapping SVs

1 paper

chr3:179615054 T>C

NM_002492.4

p.L70L

c.208T>C

NDUF_B5

exact variant not in gnomAD43 overlapping SVs

1 paper

chr3:179615055 T>A

NM_002492.4

p.L70*

c.209T>A

NDUF_B5

exact variant not in gnomAD43 overlapping SVs

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