Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2
Variant:p.W617*

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
5 papers
NM_019066.5
p.W617*
c.1851G>A
Surrounding Variants
7 papers
NM_019066.5
p.W617*
c.1850G>A
1 paper
NM_019066.5
p.W627insFs
c.1879dupT
2 papers
NM_019066.5
p.E599_Q607del0
c.1797_1820del24
1 paper
NM_019066.5
p.Q628*
c.1882C>T
3 papers
NM_019066.5
p.Q607*
c.1819C>T
4 papers
NM_019066.5
p.E605*
c.1813G>T
1 paper
NM_019066.5
p.E599_M604delFs
c.1797_1810del14
3 papers
NM_019066.5
p.A632T
c.1894G>A
2 papers
NM_019066.5
p.S603*
c.1808C>G
2 papers
NM_019066.5
p.S603*
c.1808C>A
1 paper
NM_019066.5
p.Q633delFs
c.1897_1898delTG
1 paper
NM_019066.5
p.P601fs
c.1801_1802fs
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