Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2
Variant:p.Q563*

MAGEL2

229 papers

RefSeq Summary

Prader-Willi syndrome (PWS) is caused by the loss of expression of imprinted genes in chromosome 15q11-q13 region. Affected individuals exhibit neonatal hypotonia, developmental delay, and childhood-o...

Pfam Domains

MAGEaa 1027–1195UCSCMAGE homology domain

Gene Aliases

HGNC Name

MAGE family member L2

HGNC Previous Symbol

NDNL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_019066.5
p.Q563*
c.1687C>T
Surrounding Variants
2 papers
NM_019066.5
p.P564A
c.1690C>G
1 paper
NM_019066.5
p.P559fs
c.1675_1676fs
1 paper
NM_019066.5
p.P559delFs
c.1676delG
1 paper
NM_019066.5
p.P567T
c.1699C>A
1 paper
NM_019066.5
p.A557T
c.1669G>A
1 paper
NM_019066.5
p.P569S
c.1705C>T
1 paper
NM_019066.5
p.A554V
c.1661C>T
1 paper
NM_019066.5
p.P573S
c.1717C>T
1 paper
NM_019066.5
p.P552R
c.1655C>G
1 paper
NM_019066.5
p.V551fs
c.1651_1652fs
4 papers
NM_019066.5
p.V551delFs
c.1652delA
4 papers
NM_019066.5
p.V551fs
c.1651_1652fs
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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."