Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2
Variant:p.G86V

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.G86V
c.257G>T
Surrounding Variants
1 paper
NM_019066.5
p.G86A
c.257G>C
1 paper
NM_019066.5
p.T80A
c.238A>G
2 papers
NM_019066.5
p.P93S
c.277C>T
2 papers
NM_019066.5
p.M79V
c.235A>G
1 paper
NM_019066.5
p.V76E
c.227T>A
1 paper
NM_019066.5
p.G96E
c.287G>A
1 paper
NM_019066.5
p.P75P
c.225G>A
3 papers
NM_019066.5
p.P75delFs
c.224delG
2 papers
NM_019066.5
p.P75L
c.224C>T
2 papers
NM_019066.5
p.P75fs
c.223_224fs
1 paper
NM_019066.5
p.A74T
c.220G>A
1 paper
NM_019066.5
p.P73P
c.219C>G
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."