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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NDUFB4

NDUFB4

54 papers

RefSeq Summary

This gene encodes a non-catalytic subunit of the multisubunit NADH:ubiquinone oxidoreductase, the first enzyme complex in the mitochondrial electron transport chain (complex I). Mammalian complex I is...

Pfam Domains

NDUF_B4aa 5–128UCSCNADH-ubiquinone oxidoreductase B15 subunit (NDUFB4)

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase subunit B4

HGNC Alias Symbol

B15

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 28 variants

1 paper

chr3:120596360 AT>A

NM_004547.6

p.M1delFs

c.2delT

exact variant not in gnomAD70 overlapping SVs

1 paper

chr3:120596362 G>A

NM_004547.6

p.M1I

c.3G>A

exact variant not in gnomAD70 overlapping SVs

1 paper

chr3:120596367 T>A

NM_004547.6

p.F3Y

c.8T>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a70 overlapping SVs

1 paper

chr3:120596369 C>A

NM_004547.6

p.P4T

c.10C>A

Exome: 0.0% (AC=6, hom=0)Genome: n/a70 overlapping SVs

1 paper

chr3:120596369 C>T

NM_004547.6

p.P4S

c.10C>T

Exome: 0.0% (AC=11, hom=0)Genome: 0.0% (AC=1, hom=0)70 overlapping SVs

1 paper

chr3:120596385 C>T

NM_004547.6

p.S9L

c.26C>T

NDUF_B4

Exome: 0.0% (AC=3, hom=0)Genome: n/a70 overlapping SVs

1 paper

chr3:120596401 G>A

NM_004547.6

p.L14L

c.42G>A

NDUF_B4

exact variant not in gnomAD70 overlapping SVs

1 paper

chr3:120596406 A>C

NM_004547.6

p.E16A

c.47A>C

NDUF_B4

exact variant not in gnomAD70 overlapping SVs

1 paper

chr3:120596436 C>T

NM_004547.6

p.S26F

c.77C>T

NDUF_B4

Exome: 0.0% (AC=245, hom=1)Genome: 0.0% (AC=27, hom=1)70 overlapping SVs

1 paper

chr3:120596439 C>T

NM_004547.6

p.P27L

c.80C>T

NDUF_B4

Exome: 0.0% (AC=20, hom=0)Genome: 0.0% (AC=1, hom=0)70 overlapping SVs

1 paper

chr3:120596442 A>G

NM_004547.6

p.E28G

c.83A>G

NDUF_B4

Exome: 0.0% (AC=1, hom=0)Genome: n/a70 overlapping SVs

1 paper

chr3:120596446 C>T

NM_004547.6

p.T29T

c.87C>T

NDUF_B4

exact variant not in gnomAD70 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."