Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2
Variant:p.P462_A463delins

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.P462_A463delins
c.1386_1387delinsAC
Surrounding Variants
1 paper
NM_019066.5
p.A463S
c.1387G>T
3 papers
NM_019066.5
p.A463P
c.1387G>C
1 paper
NM_019066.5
p.P462T
c.1384C>A
1 paper
NM_019066.5
p.R459C
c.1375C>T
1 paper
NM_019066.5
p.P462_P469del0
c.1386_1406del21
1 paper
NM_019066.5
p.P470A
c.1408C>G
1 paper
NM_019066.5
p.P456A
c.1366C>G
1 paper
NM_019066.5
p.A463_P469del0
c.1387_1407del21
1 paper
NM_019066.5
p.V471L
c.1411G>T
1 paper
NM_019066.5
p.V471L
c.1411G>C
1 paper
NM_019066.5
p.A454T
c.1360G>A
1 paper
NM_019066.5
p.A475_P476insC
c.1423_1427ins3
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