Varaico: Literature-Extracted Genetic Variants

Gene:MAGED2
Variant:p.L31W

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.L31W
c.92T>G
Surrounding Variants
1 paper
NM_177433.3
p.M27I
c.81G>A
1 paper
NM_177433.3
p.M27I
c.81G>C
1 paper
NM_177433.3
p.M27I
c.81G>T
1 paper
NM_177433.3
p.M27V
c.79A>G
1 paper
NM_177433.3
p.D22D
c.66C>T
1 paper
NM_177433.3
p.S19S
c.57A>G
1 paper
NM_177433.3
p.K44E
c.130A>G
1 paper
NM_177433.3
p.A16G
c.47C>G
1 paper
NM_177433.3
p.K59N
c.177A>T
1 paper
NM_177433.3
p.A60V
c.179C>T
1 paper
NM_177433.3
p.A66A
c.198C>T
1 paper
NM_177433.3
p.R76W
c.226C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."