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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP5MG

ATP5MG

17 papers

RefSeq Summary

Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subu...

Pfam Domains

ATP-synt_Gaa 10–102UCSCMitochondrial ATP synthase g subunit

Gene Aliases

HGNC Name

ATP synthase membrane subunit g

HGNC Previous Symbol

ATP5L

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 15 variants

1 paper

chr11:118401666 A>G

NM_006476.5

p.M1V

c.1A>G

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)19 overlapping SVs

1 paper

chr11:118401667 T>C

NM_006476.5

p.M1T

c.2T>C

Exome: 0.0% (AC=2, hom=0)Genome: n/a19 overlapping SVs

1 paper

chr11:118406943 T>A

NM_006476.5

p.V20E

c.59T>A

ATP-synt_G

exact variant not in gnomAD19 overlapping SVs

1 paper

chr11:118406951 T>C

NM_006476.5

p.S23P

c.67T>C

ATP-synt_G

Exome: 0.0% (AC=49, hom=0)Genome: 0.0% (AC=2, hom=0)19 overlapping SVs

1 paper

chr11:118406961 G>T

NM_006476.5

p.R26L

c.77G>T

ATP-synt_G

Exome: 0.0% (AC=4, hom=0)Genome: n/a19 overlapping SVs

1 paper

chr11:118406982 A>G

NM_006476.5

p.Y33C

c.98A>G

ATP-synt_G

exact variant not in gnomAD19 overlapping SVs

1 paper

chr11:118406983 C>T

NM_006476.5

p.Y33Y

c.99C>T

ATP-synt_G

Exome: 0.0% (AC=18, hom=0)Genome: 0.0% (AC=2, hom=0)19 overlapping SVs

1 paper

chr11:118407002 C>CGT

NM_006476.5

p.P40insFs

c.118_119insGT

ATP-synt_G

exact variant not in gnomAD19 overlapping SVs

1 paper

chr11:118407008 A>G

NM_006476.5

p.T42A

c.124A>G

ATP-synt_G

Exome: 0.0% (AC=11, hom=0)Genome: 0.0% (AC=1, hom=0)19 overlapping SVs

1 paper

chr11:118407089 A>T

NM_006476.5

p.T69S

c.205A>T

ATP-synt_G

exact variant not in gnomAD19 overlapping SVs

1 paper

chr11:118409038 G>C

NM_006476.5

p.L84F

c.252G>C

ATP-synt_G

exact variant not in gnomAD18 overlapping SVs

1 paper

chr11:118409038 G>T

NM_006476.5

p.L84F

c.252G>T

ATP-synt_G

exact variant not in gnomAD18 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."