Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2
Variant:p.Q578*

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
1 paper
NM_019066.5
p.Q578*
c.1732C>T
Surrounding Variants
1 paper
NM_019066.5
p.H581P
c.1742A>C
1 paper
NM_019066.5
p.P573S
c.1717C>T
1 paper
NM_019066.5
p.P569S
c.1705C>T
4 papers
NM_019066.5
p.W587*
c.1760G>A
4 papers
NM_019066.5
p.W587*
c.1761G>A
5 papers
NM_019066.5
p.Q588*
c.1762C>T
1 paper
NM_019066.5
p.P567T
c.1699C>A
1 paper
NM_019066.5
p.P590H
c.1769C>A
1 paper
NM_019066.5
p.G592S
c.1774G>A
2 papers
NM_019066.5
p.P564A
c.1690C>G
4 papers
NM_019066.5
p.Q563*
c.1687C>T
1 paper
NM_019066.5
p.P559fs
c.1675_1676fs
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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."