KIT c.2017T>C ;(p.C673R)

Variant ID: 4-55595527-T-C

NM_000222.2(KIT):c.2017T>C;(p.C673R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Serial Tumor Molecular Profiling of Newly Diagnosed HER2-Negative Breast Cancers During Chemotherapy in Combination with Angiogenesis Inhibitors.

Targeted Oncology
Choo, Joan R E JRE; Jan, Yi-Hua YH; Ow, Samuel G W SGW; Wong, Andrea A; Lee, Matilda Xinwei MX; Ngoi, Natalie N; Yadav, Kritika K; Lim, Joline S J JSJ; Lim, Siew Eng SE; Chan, Ching Wan CW; Hartman, Mikael M; Tang, Siau Wei SW; Goh, Boon Cher BC; Tan, Hon Lyn HL; Chong, Wan Qin WQ; Yvonne, Ang Li En ALE; Chan, Gloria H J GHJ; Chen, Shu-Jen SJ; Tan, Kien Thiam KT; Lee, Soo Chin SC
Publication Date: 2022-05

Variant appearance in text: KIT: C673R
PubMed Link: 35699834
Variant Present in the following documents:
  • Main text
  • 11523_2022_Article_886.pdf
View BVdb publication page



Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.

Clinical And Translational Gastroenterology
Cowan, Robert W RW; Pratt, Erica D ED; Kang, Jin Muk JM; Zhao, Jun J; Wilhelm, Joshua J JJ; Abdulla, Muhamad M; Qiao, Edmund M EM; Brennan, Luke P LP; Ulintz, Peter J PJ; Bellin, Melena D MD; Rhim, Andrew D AD
Publication Date: 2021-11-18

Variant appearance in text: KIT: 2017T>C; Cys673Arg
PubMed Link: 34797250
Variant Present in the following documents:
  • ct9-12-e00431-s006.xlsx, sheet 1
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: KIT: C673R
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page