Varaico: Literature-Extracted Genetic Variants

Gene:MAGED2
Variant:p.R446G

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.R446G
c.1336C>G
Surrounding Variants
5 papers
NM_177433.3
p.R446C
c.1336C>T
3 papers
NM_177433.3
p.R446H
c.1337G>A
3 papers
NM_177433.3
p.V456F
c.1366G>T
2 papers
NM_177433.3
p.K458Q
c.1372A>C
1 paper
NM_177433.3
p.K462_V463Splc
c.1386+1G>T
1 paper
NM_177433.3
p.K466T
c.1397A>C
3 papers
NM_177433.3
p.Q474*
c.1420C>T
3 papers
NM_177433.3
p.R476*
c.1426C>T
1 paper
NM_177433.3
p.M479T
c.1436T>C
4 papers
NM_177433.3
p.E488_E492del0
c.1464_1475del12
3 papers
NM_177433.3
p.A486_A489del0
c.1458_1466del9
1 paper
NM_177433.3
p.A489_E492del0
c.1466_1474del9
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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."