NOTCH1 c.4794C>G ;(p.R1598=)

Variant ID: 9-139399349-G-C

NM_017617.3(NOTCH1):c.4794C>G;(p.R1598=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications
Boström, Martin M; Larsson, Erik E
Publication Date: 2022-11-17

Variant appearance in text: NOTCH1: R1598R
PubMed Link: 36396655
Variant Present in the following documents:
  • 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs558708604
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs558708604
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



Serial mutational tracking in surgically resected locally advanced colorectal cancer with neoadjuvant chemotherapy.

British Journal Of Cancer
Sugimachi, Keishi K; Sakimura, Shotaro S; Kuramitsu, Shotaro S; Hirata, Hidenari H; Niida, Atsushi A; Iguchi, Tomohiro T; Eguchi, Hidetoshi H; Masuda, Takaaki T; Morita, Masaru M; Toh, Yasushi Y; Maehara, Yoshihiko Y; Suzuki, Yutaka Y; Mimori, Koshi K
Publication Date: 2018-08

Variant appearance in text: NOTCH1: R1598R
PubMed Link: 30072744
Variant Present in the following documents:
  • Main text
View BVdb publication page