Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2
Variant:p.W965*

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.W965*
c.2894G>A
Surrounding Variants
6 papers
NM_019066.5
p.W965*
c.2895G>A
1 paper
NM_019066.5
p.A966fs
c.2896_2897fs
2 papers
NM_019066.5
p.S962S
c.2886C>T
1 paper
NM_019066.5
p.P949_P961delFs
c.2847_2883del37
1 paper
NM_019066.5
p.W970*
c.2909G>A
1 paper
NM_019066.5
p.W970*
c.2910G>A
7 papers
NM_019066.5
p.W958*
c.2874G>A
1 paper
NM_019066.5
p.W958L
c.2873G>T
9 papers
NM_019066.5
p.W958*
c.2873G>A
2 papers
NM_019066.5
p.I954insFs
c.2861_2862insG
1 paper
NM_019066.5
p.I954fs
c.2860_2861fs
1 paper
NM_019066.5
p.S952delFs
c.2855delG
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