Varaico: Literature-Extracted Genetic Variants

Gene:MAEA
Variant:p.C340S

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.C340S
c.1018T>A
Surrounding Variants
1 paper
NM_001017405.3
p.C340S
c.1019G>C
1 paper
NM_001017405.3
p.R337C
c.1009C>T
1 paper
NM_001017405.3
p.E349K
c.1045G>A
1 paper
NM_001017405.3
p.E349G
c.1046A>G
1 paper
NM_001017405.3
p.C317S
c.950G>C
1 paper
NM_001017405.3
p.C317S
c.949T>A
2 papers
NM_001017405.3
p.C314S
c.941G>C
2 papers
NM_001017405.3
p.C314S
c.940T>A
1 paper
NM_001017405.3
p.Y303H
c.907T>C
1 paper
NM_001017405.3
p.P300Splc
c.900-88C>T
1 paper
NM_001017405.3
p.Q372K
c.1114C>A
1 paper
NM_001017405.3
p.Y394D
c.1180T>G
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