Varaico: Literature-Extracted Genetic Variants

Gene:MAGED2

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
1–12 of 106 variants
5 papers
NM_177433.3
p.R446C
c.1336C>T
4 papers
NM_177433.3
p.D275delFs
c.823delG
4 papers
NM_177433.3
p.E488_E492del0
c.1464_1475del12
4 papers
NM_177433.3
p.A533V
c.1598C>T
3 papers
NM_177433.3
p.T92insFs
c.274dupA
3 papers
NM_177433.3
p.K133*
c.397A>T
3 papers
NM_177433.3
p.L245delFs
c.733_734delCT
3 papers
NM_177433.3
p.D275fs
c.823_824fs
3 papers
NM_177433.3
p.R323*
c.967C>T
3 papers
NM_177433.3
p.S327S
c.981C>T
3 papers
NM_177433.3
p.Y346*
c.1038C>A
3 papers
NM_177433.3
p.Y346*
c.1038C>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."