NOTCH1 c.635G>A ;(p.G212D)

Variant ID: 9-139417409-C-T

NM_017617.3(NOTCH1):c.635G>A;(p.G212D)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Identifying Phased Mutations and Complex Rearrangements in Human Prostate Cancer Cell Lines through Linked-Read Whole-Genome Sequencing.

Molecular Cancer Research : Mcr
Pham, Minh-Tam MT; Gupta, Anuj A; Gupta, Harshath H; Vaghasia, Ajay A; Skaist, Alyza A; Garrison, McKinzie A MA; Coulter, Jonathan B JB; Haffner, Michael C MC; Zheng, S Lilly SL; Xu, Jianfeng J; DeStefano Shields, Christina C; Isaacs, William B WB; Wheelan, Sarah J SJ; Nelson, William G WG; Yegnasubramanian, Srinivasan S
Publication Date: 2022-07-06

Variant appearance in text: NOTCH1: 635G>A; G212D
PubMed Link: 35452513
Variant Present in the following documents:
  • mcr-21-0683_supplementary_tables_1-13_suppst1-13.xlsx, sheet 7
View BVdb publication page



Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: NOTCH1: Gly212Asp
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page