Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2
Variant:p.G285R

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.G285R
c.853G>C
Surrounding Variants
2 papers
NM_019066.5
p.G285R
c.853G>A
1 paper
NM_019066.5
p.P281S
c.841C>T
1 paper
NM_019066.5
p.K280Q
c.838A>C
1 paper
NM_019066.5
p.P271R
c.812C>G
1 paper
NM_019066.5
p.P301S
c.901C>T
1 paper
NM_019066.5
p.M268fs
c.802_803fs
1 paper
NM_019066.5
p.P264S
c.790C>T
2 papers
NM_019066.5
p.P307S
c.919C>T
1 paper
NM_019066.5
p.P262T
c.784C>A
1 paper
NM_019066.5
p.M308V
c.922A>G
1 paper
NM_019066.5
p.Q317R
c.950A>G
1 paper
NM_019066.5
p.M319V
c.955A>G
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