Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2
Variant:p.S133P

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.S133P
c.397T>C
Surrounding Variants
1 paper
NM_019066.5
p.H131fs
c.391_392fs
1 paper
NM_019066.5
p.V130fs
c.388_389fs
3 papers
NM_019066.5
p.M129V
c.385A>G
1 paper
NM_019066.5
p.H141Y
c.421C>T
1 paper
NM_019066.5
p.P145L
c.434C>T
1 paper
NM_019066.5
p.G146E
c.437G>A
1 paper
NM_019066.5
p.P118T
c.352C>A
1 paper
NM_019066.5
p.H151N
c.451C>A
1 paper
NM_019066.5
p.P154R
c.461C>G
1 paper
NM_019066.5
p.P155L
c.464C>T
1 paper
NM_019066.5
p.M109V
c.325A>G
1 paper
NM_019066.5
p.V107V
c.321C>T
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