Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2
Variant:p.R1043G

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.R1043G
c.3127C>G
Surrounding Variants
7 papers
NM_019066.5
p.Q1042*
c.3124C>T
8 papers
NM_019066.5
p.S1044*
c.3131C>A
2 papers
NM_019066.5
p.V1041delFs
c.3122delA
3 papers
NM_019066.5
p.V1041fs
c.3121_3122fs
1 paper
NM_019066.5
p.A1037D
c.3110C>A
1 paper
NM_019066.5
p.R1052*
c.3154C>T
1 paper
NM_019066.5
p.K1055fs
c.3163_3164fs
2 papers
NM_019066.5
p.K1055delFs
c.3164_3165delTT
3 papers
NM_019066.5
p.E1057*
c.3169G>T
1 paper
NM_019066.5
p.E1057fs
c.3169_3170fs
1 paper
NM_019066.5
p.A1026insFs
c.3078dupG
1 paper
NM_019066.5
p.L1027fs
c.3079_3080fs
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