Varaico: Literature-Extracted Genetic Variants

Gene:MAGED2
Variant:p.N165Y

MAGED2

65 papers

RefSeq Summary

This gene is a member of the MAGED gene family. The MAGED genes are clustered on chromosome Xp11. This gene is located in Xp11.2, a hot spot for X-linked intellectual disability (XLID). Mutations in t...

Pfam Domains

MAGEaa 286–454UCSCMAGE homology domain

Gene Aliases

HGNC Name

MAGE family member D2

HGNC Alias Symbols

JCL-1; BCG1; 11B6; MAGE-D2; HCA10; MGC8386

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_177433.3
p.N165Y
c.493A>T
Surrounding Variants
1 paper
NM_177433.3
p.Q166R
c.497A>G
1 paper
NM_177433.3
p.A177T
c.529G>A
1 paper
NM_177433.3
p.E152*
c.454G>T
1 paper
NM_177433.3
p.Q147P
c.440A>C
3 papers
NM_177433.3
p.K133*
c.397A>T
2 papers
NM_177433.3
p.T132T
c.396A>G
1 paper
NM_177433.3
p.A130G
c.389C>G
2 papers
NM_177433.3
p.V129G
c.386T>G
1 paper
NM_177433.3
p.V129fs
c.385_386fs
2 papers
NM_177433.3
p.V129fs
c.385_386fs
1 paper
NM_177433.3
p.V129delFs
c.386_387delTG
1 paper
NM_177433.3
p.T123delFs
c.369delC
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