Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2
Variant:p.S713*

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
2 papers
NM_019066.5
p.S713*
c.2138C>A
Surrounding Variants
2 papers
NM_019066.5
p.S713*
c.2138C>G
4 papers
NM_019066.5
p.S718*
c.2153C>G
5 papers
NM_019066.5
p.S718*
c.2153C>A
5 papers
NM_019066.5
p.L708fs
c.2122_2123fs
7 papers
NM_019066.5
p.F706delFs
c.2118delA
1 paper
NM_019066.5
p.F706fs
c.2116_2117fs
1 paper
NM_019066.5
p.E720E
c.2160A>G
1 paper
NM_019066.5
p.N705K
c.2115T>G
2 papers
NM_019066.5
p.N705delFs
c.2113_2114delTT
3 papers
NM_019066.5
p.N705fs
c.2113_2114fs
3 papers
NM_019066.5
p.C721*
c.2163C>A
1 paper
NM_019066.5
p.A703G
c.2108C>G
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