Varaico: Literature-Extracted Genetic Variants

Gene:MAGED2
Variant:p.R323fs

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.R323fs
c.967_968fs
Surrounding Variants
3 papers
NM_177433.3
p.R323*
c.967C>T
2 papers
NM_177433.3
p.R323insFs
c.967dupC
3 papers
NM_177433.3
p.S327S
c.981C>T
1 paper
NM_177433.3
p.L328V
c.982T>G
1 paper
NM_177433.3
p.D308E
c.924C>A
1 paper
NM_177433.3
p.S303*
c.908C>A
1 paper
NM_177433.3
p.S303L
c.908C>T
1 paper
NM_177433.3
p.R302H
c.905G>A
1 paper
NM_177433.3
p.K293N
c.879A>C
1 paper
NM_177433.3
p.K293N
c.879A>T
2 papers
NM_177433.3
p.A283fs
c.847_848fs
2 papers
NM_177433.3
p.R282_A283Splc
c.847-9C>G
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