Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2
Variant:p.W686fs

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
4 papers
NM_019066.5
p.W686fs
c.2056_2057fs
Surrounding Variants
4 papers
NM_019066.5
p.W686_P689delFs
c.2056_2066del11
2 papers
NM_019066.5
p.V692I
c.2074G>A
1 paper
NM_019066.5
p.L680fs
c.2038_2039fs
1 paper
NM_019066.5
p.P678delFs
c.2034delG
1 paper
NM_019066.5
p.T679fs
c.2035_2036fs
1 paper
NM_019066.5
p.E676D
c.2028G>T
1 paper
NM_019066.5
p.E676D
c.2028G>C
1 paper
NM_019066.5
p.T679_A695insFs
c.2037_2083dup47
1 paper
NM_019066.5
p.A675delFs
c.2024_2025delCG
1 paper
NM_019066.5
p.Q696K
c.2086C>A
1 paper
NM_019066.5
p.G698*
c.2092G>T
1 paper
NM_019066.5
p.G672fs
c.2014_2015fs
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