Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2
Variant:p.P653fs

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.P653fs
c.1957_1958fs
Surrounding Variants
1 paper
NM_019066.5
p.A652G
c.1955C>G
1 paper
NM_019066.5
p.A652D
c.1955C>A
2 papers
NM_019066.5
p.P653_P654delFs
c.1958_1962del5
1 paper
NM_019066.5
p.Q644E
c.1930C>G
2 papers
NM_019066.5
p.P641insFs
c.1923dupC
2 papers
NM_019066.5
p.P664fs
c.1990_1991fs
2 papers
NM_019066.5
p.P664Fs
c.1990_1991delinsAFs
1 paper
NM_019066.5
p.P641R
c.1922C>G
1 paper
NM_019066.5
p.P641T
c.1921C>A
26 papers
NM_019066.5
p.Q666fs
c.1996_1997fs
4 papers
NM_019066.5
p.Q666*
c.1996C>T
1 paper
NM_019066.5
p.Q666P
c.1997A>C
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