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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ME1

Variant:p.P323S

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

chr6:83237776 G>A

NM_002395.6

p.P323S

c.967C>T

Malic_M

Exome: 0.0% (AC=151, hom=0)Genome: 0.0% (AC=69, hom=0)73 overlapping SVs

Surrounding Variants

1 paper

chr6:83237814 G>GCTGTAACACA

NM_002395.6

p.A310insFs

c.929_930ins10

Malic_M

exact variant not in gnomAD73 overlapping SVs

1 paper

chr6:83237814 G>GTAACACA

NM_002395.6

p.A310insFs

c.929_930ins7

Malic_M

exact variant not in gnomAD73 overlapping SVs

1 paper

chr6:83239542 T>C

NM_002395.6

p.G303G

c.909A>G

Malic_M

Exome: 40.4% (AC=586639, hom=120908)Genome: 44.6% (AC=67710, hom=15676)73 overlapping SVs

1 paper

chr6:83228891 TG>T

NM_002395.6

p.H356delFs

c.1066delG

Malic_M

Exome: 0.0% (AC=0, hom=0)Genome: n/a73 overlapping SVs

1 paper

chr6:83228883 C>T

NM_002395.6

p.E359K

c.1075G>A

Malic_M

Exome: n/aGenome: 0.0% (AC=1, hom=0)73 overlapping SVs

3 papers

chr6:83228874 T>G

NM_002395.6

p.K362Q

c.1084A>C

Malic_M

exact variant not in gnomAD73 overlapping SVs

1 paper

chr6:83228859 T>C

NM_002395.6

p.I367V

c.1099A>G

Malic_M

Exome: 0.0% (AC=56, hom=1)Genome: 0.0% (AC=7, hom=1)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."