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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ME3

Variant:p.Q89P

ME3

51 papers

RefSeq Summary

Malic enzyme catalyzes the oxidative decarboxylation of malate to pyruvate using either NAD+ or NADP+ as a cofactor. Mammalian tissues contain 3 distinct isoforms of malic enzyme: a cytosolic NADP(+)-...

Pfam Domains

malicaa 114–295UCSCMalic enzyme, N-terminal domain

Malic_Maa 305–557UCSCMalic enzyme, NAD binding domain

Gene Aliases

HGNC Name

malic enzyme 3

HGNC Previous Name

malic enzyme 3, NADP(+)-dependent, mitochondrial

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr11:86559741 T>G

NM_001161586.3

p.Q89P

c.266A>C

exact variant not in gnomAD41 overlapping SVs

Surrounding Variants

1 paper

chr11:86559745 C>T

NM_001161586.3

p.V88I

c.262G>A

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=2, hom=0)41 overlapping SVs

1 paper

chr11:86559778 C>T

NM_001161586.3

p.G77S

c.229G>A

Exome: 0.0% (AC=14, hom=0)Genome: n/a41 overlapping SVs

1 paper

chr11:86556672 C>A

NM_001161586.3

p.R116R

c.348G>T

malic

Exome: 18.6% (AC=271139, hom=29051)Genome: 20.5% (AC=31129, hom=3719)39 overlapping SVs

2 papers

chr11:86556602 T>A

NM_001161586.3

p.T140S

c.418A>T

malic

exact variant not in gnomAD39 overlapping SVs

1 paper

chr11:86556599 C>T

NM_001161586.3

p.V141M

c.421G>A

malic

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=6, hom=0)39 overlapping SVs

1 paper

chr11:86556591 C>T

NM_001161586.3

p.L143L

c.429G>A

malic

Exome: 18.5% (AC=270371, hom=28844)Genome: 20.4% (AC=31098, hom=3717)39 overlapping SVs

1 paper

chr11:86556586 C>A

NM_001161586.3

p.C145F

c.434G>T

malic

exact variant not in gnomAD39 overlapping SVs

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