Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.Q551Q
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EIF2AK3

NM_004836.7:p.Q551Q

Associated Papers

Neurodegeneration risk factor, EIF2AK3 (PERK), influences tau protein aggregation.

Park G et al.

The Journal of Biological Chemistry, 2023

36563857 (PubMed )
Supplement: mmc2.xlsx › gnomAD_v2.1.1_ENSG00000172071_2

Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.

Sakaguchi N et al.

Npj Genomic Medicine, 2022

35304488 (PubMed )
Supplement: 41525_2022_294_MOESM2_ESM.xlsx › Table_1
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