Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2
Variant:p.P203T

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.P203T
c.607C>A
Surrounding Variants
1 paper
NM_019066.5
p.P202L
c.605C>T
1 paper
NM_019066.5
p.P204S
c.610C>T
1 paper
NM_019066.5
p.P198L
c.593C>T
1 paper
NM_019066.5
p.G196A
c.587G>C
1 paper
NM_019066.5
p.G196W
c.586G>T
1 paper
NM_019066.5
p.P195Q
c.584C>A
1 paper
NM_019066.5
p.H211L
c.632A>T
1 paper
NM_019066.5
p.P193R
c.578C>G
1 paper
NM_019066.5
p.P213P
c.639A>C
1 paper
NM_019066.5
p.P192S
c.574C>T
3 papers
NM_019066.5
p.A190G
c.569C>G
1 paper
NM_019066.5
p.G216delFs
c.648delC
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."