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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NDUFAF7

NDUFAF7

47 papers

RefSeq Summary

This gene encodes an assembly factor protein which helps in the assembly and stabilization of Complex I, a large multi-subunit enzyme in the mitochondrial respiratory chain. Complex I is involved in s...

Pfam Domains

Methyltransf_28aa 100–354UCSCPutative S-adenosyl-L-methionine-dependent methyltransferase

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase complex assembly factor 7

HGNC Previous Symbol

C2orf56

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 99 variants

7 papers

chr2:37246057 C>A

NM_144736.5

p.D266E

c.798C>A

Methyltransf_28

Exome: 0.0% (AC=1, hom=0)Genome: n/a94 overlapping SVs

7 papers

chr2:37246057 C>G

NM_144736.5

p.D266E

c.798C>G

Methyltransf_28

Exome: 0.0% (AC=1, hom=0)Genome: n/a94 overlapping SVs

2 papers

chr2:37241743 T>TN

NM_144736.5

p.S192fs

c.574_575fs

Methyltransf_28

exact variant not in gnomAD94 overlapping SVs

2 papers

chr2:37241750 T>A

NM_144736.5

p.I194N

c.581T>A

Methyltransf_28

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=1, hom=0)94 overlapping SVs

2 papers

chr2:37246058 G>A

NM_144736.5

p.E267K

c.799G>A

Methyltransf_28

Exome: 0.0% (AC=41, hom=0)Genome: 0.0% (AC=10, hom=0)94 overlapping SVs

2 papers

chr2:37247479 T>A

NM_144736.5

p.H320Q

c.960T>A

Methyltransf_28

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=5, hom=0)93 overlapping SVs

2 papers

chr2:37247479 T>G

NM_144736.5

p.H320Q

c.960T>G

Methyltransf_28

exact variant not in gnomAD93 overlapping SVs

1 paper

chr2:37231709 A>C

NM_144736.5

p.S2R

c.4A>C

Exome: 0.0% (AC=36, hom=0)Genome: 0.0% (AC=2, hom=0)94 overlapping SVs

1 paper

chr2:37231710 G>A

NM_144736.5

p.S2N

c.5G>A

exact variant not in gnomAD94 overlapping SVs

1 paper

chr2:37231711 T>A

NM_144736.5

p.S2R

c.6T>A

exact variant not in gnomAD94 overlapping SVs

1 paper

chr2:37231711 T>G

NM_144736.5

p.S2R

c.6T>G

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)94 overlapping SVs

1 paper

chr2:37231737 C>G

NM_144736.5

p.P11R

c.32C>G

Exome: 0.0% (AC=3, hom=0)Genome: n/a94 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."