Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2
Variant:p.G226insFs

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.G226insFs
c.677_678insA
Surrounding Variants
1 paper
NM_019066.5
p.T227A
c.679A>G
1 paper
NM_019066.5
p.M229T
c.686T>C
1 paper
NM_019066.5
p.M229I
c.687G>T
1 paper
NM_019066.5
p.M229I
c.687G>C
1 paper
NM_019066.5
p.M229I
c.687G>A
1 paper
NM_019066.5
p.P232S
c.694C>T
1 paper
NM_019066.5
p.G216delFs
c.648delC
1 paper
NM_019066.5
p.T217fs
c.649_650fs
1 paper
NM_019066.5
p.G236R
c.706G>C
1 paper
NM_019066.5
p.G236R
c.706G>A
2 papers
NM_019066.5
p.G236_V237Fs
c.708_709delinsTFs
1 paper
NM_019066.5
p.P213P
c.639A>C
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