ERBB2 c.788T>C ;(p.I263T)

Variant ID: 17-37866621-T-C

NM_004448.2(ERBB2):c.788T>C;(p.I263T)

This variant was identified in 6 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: ERBB2: I263T
PubMed Link: 36396655
Variant Present in the following documents:
  • 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: ERBB2: I263T
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: ERBB2: I263T
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



The HER2 S310F Mutant Can Form an Active Heterodimer with the EGFR, Which Can Be Inhibited by Cetuximab but Not by Trastuzumab as well as Pertuzumab.

Biomolecules
Shin, Jung Won JW; Kim, Soohyun S; Ha, Suji S; Choi, Byungsan B; Kim, Seongyeong S; Im, Seock-Ah SA; Yoon, Tae-Young TY; Chung, Junho J
Publication Date: 2019-10-19

Variant appearance in text: HER2: I263T
PubMed Link: 31635022
Variant Present in the following documents:
  • Main text
  • biomolecules-09-00629.pdf
View BVdb publication page



HER2 activating mutations are targets for colorectal cancer treatment.

Cancer Discovery
Kavuri, Shyam M SM; Jain, Naveen N; Galimi, Francesco F; Cottino, Francesca F; Leto, Simonetta M SM; Migliardi, Giorgia G; Searleman, Adam C AC; Shen, Wei W; Monsey, John J; Trusolino, Livio L; Jacobs, Samuel A SA; Bertotti, Andrea A; Bose, Ron R
Publication Date: 2015-08

Variant appearance in text: HER2: I263T
PubMed Link: 26243863
Variant Present in the following documents:
  • Main text
View BVdb publication page



Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Genome Biology
Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B
Publication Date: 2014-10-28

Variant appearance in text: ERBB2: I263T
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page