Varaico: Literature-Extracted Genetic Variants

Gene:ME1
Variant:p.K146_A147Splc

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002395.6
p.K146_A147Splc
c.438+3A>G
Surrounding Variants
1 paper
NM_002395.6
p.H132N
c.394C>A
1 paper
NM_002395.6
p.G172V
c.515G>T
1 paper
NM_002395.6
p.D194D
c.582T>C
1 paper
NM_002395.6
p.G196R
c.586G>A
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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."