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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ME2

Variant:p.L516P

ME2

46 papers

RefSeq Summary

This gene encodes a mitochondrial NAD-dependent malic enzyme, a homotetrameric protein, that catalyzes the oxidative decarboxylation of malate to pyruvate. It had previously been weakly linked to a sy...

Pfam Domains

malicaa 89–270UCSCMalic enzyme, N-terminal domain

Malic_Maa 280–535UCSCMalic enzyme, NAD binding domain

Gene Aliases

HGNC Name

malic enzyme 2

HGNC Previous Name

malic enzyme 2, NAD(+)-dependent, mitochondrial

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr18:50940346 T>C

NM_002396.5

p.L516P

c.1547T>C

Malic_M

Exome: 0.0% (AC=25, hom=0)Genome: n/a10 overlapping SVs

Surrounding Variants

1 paper

chr18:50939602 C>T

NM_002396.5

p.R484W

c.1450C>T

Malic_M

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=3, hom=0)10 overlapping SVs

1 paper

chr18:50932321 T>TN

NM_002396.5

p.F460fs

c.1378_1379fs

Malic_M

exact variant not in gnomAD10 overlapping SVs

1 paper

chr18:50932320 CTT>C

NM_002396.5

p.F460delFs

c.1379_1380delTT

Malic_M

exact variant not in gnomAD10 overlapping SVs

1 paper

chr18:50932292 G>A

NM_002396.5

p.G450E

c.1349G>A

Malic_M

Exome: 8.5% (AC=123447, hom=6612)Genome: 14.1% (AC=21505, hom=2305)10 overlapping SVs

1 paper

chr18:50932280 G>A

NM_002396.5

p.G446D

c.1337G>A

Malic_M

Exome: 0.0% (AC=1, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr18:50930533 T>C

NM_002396.5

p.E438_G439Splc

c.1315-1725T>C

Exome: n/aGenome: 68.3% (AC=103865, hom=35902)10 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."