Varaico: Literature-Extracted Genetic Variants

Gene:MAGED2
Variant:p.K293N

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.K293N
c.879A>C
Surrounding Variants
1 paper
NM_177433.3
p.K293N
c.879A>T
1 paper
NM_177433.3
p.R302H
c.905G>A
1 paper
NM_177433.3
p.S303*
c.908C>A
1 paper
NM_177433.3
p.S303L
c.908C>T
2 papers
NM_177433.3
p.A283fs
c.847_848fs
2 papers
NM_177433.3
p.R282_A283Splc
c.847-9C>G
1 paper
NM_177433.3
p.R282fs
c.844_845fs
2 papers
NM_177433.3
p.G281insFs
c.842_843dupGG
1 paper
NM_177433.3
p.D275fs
c.823_824fs
3 papers
NM_177433.3
p.D275fs
c.823_824fs
4 papers
NM_177433.3
p.D275delFs
c.823delG
2 papers
NM_177433.3
p.P268L
c.803C>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."