Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2
Variant:p.R417C

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.R417C
c.1249C>T
Surrounding Variants
1 paper
NM_019066.5
p.P420T
c.1258C>A
1 paper
NM_019066.5
p.P413L
c.1238C>T
1 paper
NM_019066.5
p.R410H
c.1229G>A
1 paper
NM_019066.5
p.V405delFs
c.1214delA
8 papers
NM_019066.5
p.P429L
c.1286C>T
1 paper
NM_019066.5
p.P399insFs
c.1196dupC
2 papers
NM_019066.5
p.P435L
c.1304C>T
1 paper
NM_019066.5
p.V443L
c.1327G>T
1 paper
NM_019066.5
p.V443L
c.1327G>C
1 paper
NM_019066.5
p.W389*
c.1167G>A
1 paper
NM_019066.5
p.W389*
c.1166G>A
1 paper
NM_019066.5
p.R445H
c.1334G>A
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