Varaico: Literature-Extracted Genetic Variants

Gene:MAGED2
Variant:p.R502Q

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.R502Q
c.1505G>A
Surrounding Variants
3 papers
NM_177433.3
p.I505_G506insFs
c.1515_1516dupTG
1 paper
NM_177433.3
p.G506fs
c.1516_1517fs
2 papers
NM_177433.3
p.A495D
c.1484C>A
3 papers
NM_177433.3
p.A495G
c.1484C>G
1 paper
NM_177433.3
p.A495fs
c.1483_1484fs
1 paper
NM_177433.3
p.A493T
c.1477G>A
1 paper
NM_177433.3
p.A490T
c.1468G>A
1 paper
NM_177433.3
p.A489_E492del0
c.1466_1474del9
3 papers
NM_177433.3
p.A486_A489del0
c.1458_1466del9
4 papers
NM_177433.3
p.E488_E492del0
c.1464_1475del12
1 paper
NM_177433.3
p.M479T
c.1436T>C
3 papers
NM_177433.3
p.R476*
c.1426C>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."