Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2
Variant:p.P172insFs

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.P172insFs
c.516dupT
Surrounding Variants
1 paper
NM_019066.5
p.M179T
c.536T>C
1 paper
NM_019066.5
p.G166A
c.497G>C
1 paper
NM_019066.5
p.V180E
c.539T>A
1 paper
NM_019066.5
p.A170_V180del0
c.509_538del30
1 paper
NM_019066.5
p.M159_H161delFs
c.475_482del8
1 paper
NM_019066.5
p.T187fs
c.559_560fs
1 paper
NM_019066.5
p.M159insFs
c.475_476insC
1 paper
NM_019066.5
p.G186delFs
c.558delC
1 paper
NM_019066.5
p.T187T
c.561C>T
3 papers
NM_019066.5
p.A190G
c.569C>G
1 paper
NM_019066.5
p.P155L
c.464C>T
1 paper
NM_019066.5
p.P154R
c.461C>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."