Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2
Variant:p.K740fs

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.K740fs
c.2218_2219fs
Surrounding Variants
3 papers
NM_019066.5
p.S739delFs
c.2216delG
5 papers
NM_019066.5
p.S739*
c.2216C>A
1 paper
NM_019066.5
p.S739T
c.2215T>A
1 paper
NM_019066.5
p.R742C
c.2224C>T
1 paper
NM_019066.5
p.R735_R742del8
c.2203_2225del24
1 paper
NM_019066.5
p.K733delFs
c.2199delT
1 paper
NM_019066.5
p.E734fs
c.2200_2201fs
1 paper
NM_019066.5
p.R729M
c.2186G>T
2 papers
NM_019066.5
p.I751V
c.2251A>G
1 paper
NM_019066.5
p.R728delFs
c.2184delG
1 paper
NM_019066.5
p.R728R
c.2184C>G
1 paper
NM_019066.5
p.R728C
c.2182C>T
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