Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2
Variant:p.W1225*

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.W1225*
c.3675G>A
Surrounding Variants
2 papers
NM_019066.5
p.W1225*
c.3674G>A
2 papers
NM_019066.5
p.E1230D
c.3690G>T
2 papers
NM_019066.5
p.E1230D
c.3690G>C
1 paper
NM_019066.5
p.L1220H
c.3659T>A
4 papers
NM_019066.5
p.K1203*
c.3607A>T
1 paper
NM_019066.5
p.M1195delFs
c.3583delT
1 paper
NM_019066.5
p.M1195fs
c.3583_3584fs
1 paper
NM_019066.5
p.Y1169F
c.3506A>T
1 paper
NM_019066.5
p.T1158T
c.3474C>G
2 papers
NM_019066.5
p.F1150delFs
c.3449_3450delAA
2 papers
NM_019066.5
p.F1150fs
c.3448_3449fs
1 paper
NM_019066.5
p.K1138N
c.3414G>T
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