Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2
Variant:p.Q541*

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
7 papers
NM_019066.5
p.Q541*
c.1621C>T
Surrounding Variants
5 papers
NM_019066.5
p.P543fs
c.1627_1628fs
6 papers
NM_019066.5
p.P543delFs
c.1628delG
2 papers
NM_019066.5
p.A538E
c.1613C>A
1 paper
NM_019066.5
p.P547fs
c.1639_1640fs
1 paper
NM_019066.5
p.T549M
c.1646C>T
4 papers
NM_019066.5
p.V551fs
c.1651_1652fs
1 paper
NM_019066.5
p.V551fs
c.1651_1652fs
4 papers
NM_019066.5
p.V551delFs
c.1652delA
1 paper
NM_019066.5
p.P552R
c.1655C>G
3 papers
NM_019066.5
p.P527delFs
c.1580delG
1 paper
NM_019066.5
p.A554V
c.1661C>T
4 papers
NM_019066.5
p.P527fs
c.1579_1580fs
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