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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ME1

Variant:p.Q488K

ME1

56 papers

RefSeq Summary

This gene encodes a cytosolic, NADP-dependent enzyme that generates NADPH for fatty acid biosynthesis. The activity of this enzyme, the reversible oxidative decarboxylation of malate, links the glycol...

Pfam Domains

malicaa 79–260UCSCMalic enzyme, N-terminal domain

Malic_Maa 270–522UCSCMalic enzyme, NAD binding domain

Gene Aliases

HGNC Name

malic enzyme 1

HGNC Previous Name

malic enzyme 1, NADP(+)-dependent, cytosolic

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr6:83216584 G>T

NM_002395.6

p.Q488K

c.1462C>A

Malic_M

Exome: 0.0% (AC=0, hom=0)Genome: n/a72 overlapping SVs

Surrounding Variants

1 paper

chr6:83212021 C>T

NM_002395.6

p.R541H

c.1622G>A

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=3, hom=0)73 overlapping SVs

1 paper

chr6:83212013 T>A

NM_002395.6

p.M544L

c.1630A>T

exact variant not in gnomAD73 overlapping SVs

1 paper

chr6:83223833 G>C

NM_002395.6

p.P459R

c.1376C>G

Malic_M

Exome: 0.0% (AC=118, hom=0)Genome: 0.0% (AC=12, hom=0)73 overlapping SVs

1 paper

chr6:83223925 T>A

NM_002395.6

p.A428A

c.1284A>T

Malic_M

exact variant not in gnomAD73 overlapping SVs

1 paper

chr6:83223930 G>A

NM_002395.6

p.R427C

c.1279C>T

Malic_M

Exome: 0.0% (AC=634, hom=3)Genome: 0.0% (AC=69, hom=0)73 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."