Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2
Variant:p.V180E

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.V180E
c.539T>A
Surrounding Variants
1 paper
NM_019066.5
p.A170_V180del0
c.509_538del30
1 paper
NM_019066.5
p.M179T
c.536T>C
1 paper
NM_019066.5
p.T187fs
c.559_560fs
1 paper
NM_019066.5
p.G186delFs
c.558delC
1 paper
NM_019066.5
p.T187T
c.561C>T
1 paper
NM_019066.5
p.P172insFs
c.516dupT
3 papers
NM_019066.5
p.A190G
c.569C>G
1 paper
NM_019066.5
p.P192S
c.574C>T
1 paper
NM_019066.5
p.P193R
c.578C>G
1 paper
NM_019066.5
p.G166A
c.497G>C
1 paper
NM_019066.5
p.P195Q
c.584C>A
1 paper
NM_019066.5
p.G196W
c.586G>T
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