Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2
Variant:p.R766*

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
4 papers
NM_019066.5
p.R766*
c.2296C>T
Surrounding Variants
1 paper
NM_019066.5
p.K760T
c.2279A>C
1 paper
NM_019066.5
p.P777T
c.2329C>A
1 paper
NM_019066.5
p.T755fs
c.2263_2264fs
1 paper
NM_019066.5
p.R743_A754insFs
c.2227_2261dup35
2 papers
NM_019066.5
p.I751V
c.2251A>G
1 paper
NM_019066.5
p.E781E
c.2343G>A
1 paper
NM_019066.5
p.S788C
c.2362A>T
1 paper
NM_019066.5
p.R735_R742del8
c.2203_2225del24
1 paper
NM_019066.5
p.R742C
c.2224C>T
1 paper
NM_019066.5
p.F790_A792delins
c.2369_2374delinsGGA
1 paper
NM_019066.5
p.K740fs
c.2218_2219fs
3 papers
NM_019066.5
p.S739delFs
c.2216delG
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