Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2
Variant:p.N1084fs

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.N1084fs
c.3250_3251fs
Surrounding Variants
1 paper
NM_019066.5
p.A1086D
c.3257C>A
2 papers
NM_019066.5
p.T1082delFs
c.3246delG
8 papers
NM_019066.5
p.E1079*
c.3235G>T
5 papers
NM_019066.5
p.E1070*
c.3208G>T
1 paper
NM_019066.5
p.V1101L
c.3301G>T
1 paper
NM_019066.5
p.V1101L
c.3301G>C
1 paper
NM_019066.5
p.S1103F
c.3308C>T
1 paper
NM_019066.5
p.R1064H
c.3191G>A
1 paper
NM_019066.5
p.R1064S
c.3190C>A
1 paper
NM_019066.5
p.I1061fs
c.3181_3182fs
4 papers
NM_019066.5
p.I1061delFs
c.3181_3182delAT
2 papers
NM_019066.5
p.I1061fs
c.3181_3182fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."