Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2
Variant:p.P118T

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.P118T
c.352C>A
Surrounding Variants
1 paper
NM_019066.5
p.M109V
c.325A>G
1 paper
NM_019066.5
p.V107V
c.321C>T
1 paper
NM_019066.5
p.V107F
c.319G>T
1 paper
NM_019066.5
p.V107I
c.319G>A
3 papers
NM_019066.5
p.M129V
c.385A>G
1 paper
NM_019066.5
p.V130fs
c.388_389fs
1 paper
NM_019066.5
p.H131fs
c.391_392fs
1 paper
NM_019066.5
p.T104I
c.311C>T
1 paper
NM_019066.5
p.S133P
c.397T>C
1 paper
NM_019066.5
p.G96E
c.287G>A
1 paper
NM_019066.5
p.H141Y
c.421C>T
2 papers
NM_019066.5
p.P93S
c.277C>T
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