Varaico: Literature-Extracted Genetic Variants

Gene:MAGED2
Variant:p.Y346*

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
3 papers
NM_177433.3
p.Y346*
c.1038C>G
Surrounding Variants
3 papers
NM_177433.3
p.Y346*
c.1038C>A
1 paper
NM_177433.3
p.L336_K337insFs
c.1008_1009insT
1 paper
NM_177433.3
p.Q335fs
c.1003_1004fs
1 paper
NM_177433.3
p.Q335delFs
c.1003delC
2 papers
NM_177433.3
p.T362Splc
c.1085+1G>A
2 papers
NM_177433.3
p.K330_V331Splc
c.991-2A>G
1 paper
NM_177433.3
p.L328V
c.982T>G
3 papers
NM_177433.3
p.S327S
c.981C>T
3 papers
NM_177433.3
p.R323*
c.967C>T
1 paper
NM_177433.3
p.R323fs
c.967_968fs
2 papers
NM_177433.3
p.R323insFs
c.967dupC
1 paper
NM_177433.3
p.D308E
c.924C>A
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