Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2
Variant:p.K1055fs

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.K1055fs
c.3163_3164fs
Surrounding Variants
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.R1052*
c.3154C>T
1 paper
NM_019066.5
p.L1059fs
c.3175_3176fs
1 paper
NM_019066.5
p.L1059insFs
c.3175_3176dupTT
2 papers
NM_019066.5
p.I1061fs
c.3181_3182fs
1 paper
NM_019066.5
p.I1061fs
c.3181_3182fs
4 papers
NM_019066.5
p.I1061delFs
c.3181_3182delAT
1 paper
NM_019066.5
p.R1064S
c.3190C>A
1 paper
NM_019066.5
p.R1064H
c.3191G>A
8 papers
NM_019066.5
p.S1044*
c.3131C>A
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."