Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2
Variant:p.Q644E

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.Q644E
c.1930C>G
Surrounding Variants
2 papers
NM_019066.5
p.P641insFs
c.1923dupC
1 paper
NM_019066.5
p.P641R
c.1922C>G
1 paper
NM_019066.5
p.P641T
c.1921C>A
20 papers
NM_019066.5
p.Q638*
c.1912C>T
1 paper
NM_019066.5
p.R637K
c.1910G>A
1 paper
NM_019066.5
p.R637fs
c.1909_1910fs
1 paper
NM_019066.5
p.Q636delFs
c.1908delC
4 papers
NM_019066.5
p.Q636*
c.1906C>T
1 paper
NM_019066.5
p.A652G
c.1955C>G
1 paper
NM_019066.5
p.A652D
c.1955C>A
2 papers
NM_019066.5
p.P653fs
c.1957_1958fs
4 papers
NM_019066.5
p.E634*
c.1900G>T
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