PMID: 24607147

ApoE variant p.V236E is associated with markedly reduced risk of Alzheimer's disease.

Molecular neurodegeneration
Medway, Christopher W CW, Abdul-Hay, Samer S, Mims, Tynickwa T, Ma, Li L, Bisceglio, Gina G, Zou, Fanggeng F, Pankratz, Shane S, Sando, Sigrid B SB, Aasly, Jan O JO, Barcikowska, Maria M, Siuda, Joanna J, Wszolek, Zbigniew K ZK, Ross, Owen A OA, Carrasquillo, Minerva M, Dickson, Dennis W DW, Graff-Radford, Neill N, Petersen, Ronald C RC, Ertekin-Taner, Nil├╝fer N, Morgan, Kevin K, Bu, Guojun G, Younkin, Steven G SG
2014-03-10

4 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-45412314-T-A APOE c.761T>A p.V254E Missense 4/4 -
19-45411110-T-C APOE c.137T>C p.L46P Missense 3/4 -
19-45412040-C-T APOE c.487C>T p.R163C Missense 4/4 -
3-158531764-T-A MFSD1 c.707T>A p.V187E Missense 7/16 -