RET c.1250G>A ;(p.R417H)

Variant ID: 10-43604665-G-A

NM_020975.4(RET):c.1250G>A;(p.R417H)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Predicting response to enzalutamide and abiraterone in metastatic prostate cancer using whole-omics machine learning.

Nature Communications
de Jong, Anouk C AC; Danyi, Alexandra A; van Riet, Job J; de Wit, Ronald R; Sjöström, Martin M; Feng, Felix F; de Ridder, Jeroen J; Lolkema, Martijn P MP
Publication Date: 2023-04-08

Variant appearance in text: RET: R417H; rs201030628
PubMed Link: 37031196
Variant Present in the following documents:
  • 41467_2023_37647_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



RET somatic mutations are underrecognized in Hirschsprung disease.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Jiang, Qian Q; Liu, Fang F; Miao, Chunyue C; Li, Qi Q; Zhang, Zhen Z; Xiao, Ping P; Su, Lin L; Yu, Kaihui K; Chen, Xiaoli X; Zhang, Feng F; Chakravarti, Aravinda A; Li, Long L
Publication Date: 2018-07

Variant appearance in text: RET: 1250G>A; Arg417His
PubMed Link: 29261189
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: RET: R417H
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page