Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2
Variant:p.S898G

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.S898G
c.2692A>G
Surrounding Variants
2 papers
NM_019066.5
p.T902M
c.2705C>T
1 paper
NM_019066.5
p.Q909*
c.2725C>T
1 paper
NM_019066.5
p.R887W
c.2659C>T
1 paper
NM_019066.5
p.G883V
c.2648G>T
1 paper
NM_019066.5
p.S882delFs
c.2646delG
1 paper
NM_019066.5
p.G883fs
c.2647_2648fs
1 paper
NM_019066.5
p.R880H
c.2639G>A
1 paper
NM_019066.5
p.P879S
c.2635C>T
1 paper
NM_019066.5
p.V876L
c.2626G>C
1 paper
NM_019066.5
p.S872C
c.2615C>G
1 paper
NM_019066.5
p.A871P
c.2611G>C
1 paper
NM_019066.5
p.T867S
c.2600C>G
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