Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2
Variant:p.P331L

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.P331L
c.992C>T
Surrounding Variants
1 paper
NM_019066.5
p.W329L
c.986G>T
1 paper
NM_019066.5
p.A320_A327del0
c.960_980del21
2 papers
NM_019066.5
p.A327T
c.979G>A
1 paper
NM_019066.5
p.M326fs
c.976_977fs
1 paper
NM_019066.5
p.L336L
c.1008G>C
1 paper
NM_019066.5
p.Q339*
c.1015C>T
1 paper
NM_019066.5
p.M319V
c.955A>G
1 paper
NM_019066.5
p.Q317R
c.950A>G
1 paper
NM_019066.5
p.P349P
c.1047G>A
1 paper
NM_019066.5
p.Q350H
c.1050G>C
1 paper
NM_019066.5
p.M308V
c.922A>G
2 papers
NM_019066.5
p.P307S
c.919C>T
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