EIF2AK3 c.1475G>A ;(p.R492Q)

Variant ID: 2-88885534-C-T

NM_004836.5(EIF2AK3):c.1475G>A;(p.R492Q)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Neurodegeneration Risk Factor, EIF2AK3 (PERK), Influences Tau Protein Aggregation.

The Journal Of Biological Chemistry
Park, Goonho G; Xu, Ke K; Chea, Leon L; Kim, Kyle K; Safarta, Lance L; Song, Keon-Hyoung KH; Wu, Jian J; Park, Soyoung S; Min, Hyejung H; Hiramatsu, Nobuhiko N; Han, Jaeseok J; Lin, Jonathan H JH
Publication Date: 2022-12-20

Variant appearance in text: rs377071401
PubMed Link: 36563857
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: EIF2AK3: R492Q; rs377071401
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.

Cancer Immunology, Immunotherapy : Cii
Wang, Chao C; Shi, Min M; Zhang, Lei L; Ji, Jun J; Xie, Ruyan R; Wu, Chao C; Guo, Xianchao X; Yang, Ying Y; Zhou, Wei W; Peng, Chenhong C; Zhang, Henghui H; Yuan, Fei F; Zhang, Jun J
Publication Date: 2021-07-13

Variant appearance in text: EIF2AK3: 1475G>A; R492Q
PubMed Link: 34255132
Variant Present in the following documents:
  • 262_2021_3012_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.

Cancer Immunology, Immunotherapy : Cii
Wang, Chao C; Shi, Min M; Zhang, Lei L; Ji, Jun J; Xie, Ruyan R; Wu, Chao C; Guo, Xianchao X; Yang, Ying Y; Zhou, Wei W; Peng, Chenhong C; Zhang, Henghui H; Yuan, Fei F; Zhang, Jun J
Publication Date: 2022-02

Variant appearance in text: EIF2AK3: 1475G>A; R492Q
PubMed Link: 34255132
Variant Present in the following documents:
  • 262_2021_3012_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page