Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2

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
1–12 of 392 variants
47 papers
NM_019066.5
p.Q666insFs
c.1996dupC
26 papers
NM_019066.5
p.Q666fs
c.1996_1997fs
22 papers
NM_019066.5
p.Q666delFs
c.1996delG
20 papers
NM_019066.5
p.Q638*
c.1912C>T
9 papers
NM_019066.5
p.Q666fs
c.1996_1997fs
9 papers
NM_019066.5
p.W958*
c.2873G>A
8 papers
NM_019066.5
p.P429L
c.1286C>T
8 papers
NM_019066.5
p.S1044*
c.3131C>A
8 papers
NM_019066.5
p.E1079*
c.3235G>T
7 papers
NM_019066.5
p.Q541*
c.1621C>T
7 papers
NM_019066.5
p.W617*
c.1850G>A
7 papers
NM_019066.5
p.F706delFs
c.2118delA
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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."