Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2
Variant:p.Q607*

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
3 papers
NM_019066.5
p.Q607*
c.1819C>T
Surrounding Variants
2 papers
NM_019066.5
p.E599_Q607del0
c.1797_1820del24
4 papers
NM_019066.5
p.E605*
c.1813G>T
1 paper
NM_019066.5
p.E599_M604delFs
c.1797_1810del14
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.P601fs
c.1801_1802fs
6 papers
NM_019066.5
p.P601delFs
c.1802delG
4 papers
NM_019066.5
p.P601delFs
c.1801_1802delGG
1 paper
NM_019066.5
p.P601Q
c.1802C>A
3 papers
NM_019066.5
p.I600delFs
c.1800delA
6 papers
NM_019066.5
p.P601fs
c.1801_1802fs
2 papers
NM_019066.5
p.E599fs
c.1795_1796fs
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