Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2
Variant:p.S987fs

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
3 papers
NM_019066.5
p.S987fs
c.2959_2960fs
Surrounding Variants
3 papers
NM_019066.5
p.G986delFs
c.2958delC
1 paper
NM_019066.5
p.G986fs
c.2956_2957fs
1 paper
NM_019066.5
p.P985delFs
c.2954delG
1 paper
NM_019066.5
p.V991I
c.2971G>A
1 paper
NM_019066.5
p.P990delFs
c.2970delG
1 paper
NM_019066.5
p.L979insFs
c.2936dupT
1 paper
NM_019066.5
p.L979fs
c.2935_2936fs
1 paper
NM_019066.5
p.V996V
c.2988C>T
2 papers
NM_019066.5
p.A997T
c.2989G>A
1 paper
NM_019066.5
p.W970*
c.2910G>A
1 paper
NM_019066.5
p.W970*
c.2909G>A
2 papers
NM_019066.5
p.T1006S
c.3016A>T
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