Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2
Variant:p.A675delFs

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.A675delFs
c.2024_2025delCG
Surrounding Variants
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.P678delFs
c.2034delG
1 paper
NM_019066.5
p.T679fs
c.2035_2036fs
1 paper
NM_019066.5
p.G672fs
c.2014_2015fs
1 paper
NM_019066.5
p.L680fs
c.2038_2039fs
2 papers
NM_019066.5
p.Q669*
c.2005C>T
9 papers
NM_019066.5
p.Q666fs
c.1996_1997fs
1 paper
NM_019066.5
p.Q666insFs
c.1997dupA
3 papers
NM_019066.5
p.Q666insFs
c.1996_1997dupCA
1 paper
NM_019066.5
p.Q666delFs
c.1997delT
1 paper
NM_019066.5
p.Q666P
c.1997A>C
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