Varaico: Literature-Extracted Genetic Variants

Gene:MAEA
Variant:p.M12V

MAEA

11 papers

RefSeq Summary

This gene encodes a protein that mediates the attachment of erythroblasts to macrophages. This attachment promotes terminal maturation and enucleation of erythroblasts, presumably by suppressing apopt...

Pfam Domains

CTLHaa 159–301UCSCCTLH/CRA C-terminal to LisH motif domain

Gene Aliases

HGNC Name

macrophage erythroblast attacher, E3 ubiquitin ligase

HGNC Alias Symbols

GID9; p44EMLP; HLC-10

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001017405.3
p.M12V
c.34A>G
Surrounding Variants
1 paper
NM_001017405.3
p.L22F
c.64C>T
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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."