Varaico: Literature-Extracted Genetic Variants

Gene:MAEA
Variant:p.R124H

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.R124H
c.371G>A
Surrounding Variants
1 paper
NM_001017405.3
p.M125V
c.373A>G
1 paper
NM_001017405.3
p.C136C
c.408C>T
1 paper
NM_001017405.3
p.T141S
c.421A>T
1 paper
NM_001017405.3
p.K144R
c.431A>G
1 paper
NM_001017405.3
p.I151T
c.452T>C
1 paper
NM_001017405.3
p.E152K
c.454G>A
1 paper
NM_001017405.3
p.A85A
c.255G>A
1 paper
NM_001017405.3
p.D65N
c.193G>A
2 papers
NM_001017405.3
p.R34C
c.100C>T
1 paper
NM_001017405.3
p.T28M
c.83C>T
1 paper
NM_001017405.3
p.K23_V24Splc
c.70-112T>G
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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."