KIT c.157G>C ;(p.E53Q)

Variant ID: 4-55561767-G-C

NM_000222.2(KIT):c.157G>C;(p.E53Q)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Nature Medicine
Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS
Publication Date: 2019-12

Variant appearance in text: KIT: Glu53Gln
PubMed Link: 31768066
Variant Present in the following documents:
  • NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 4
View BVdb publication page



Performance comparison of two commercial human whole-exome capture systems on formalin-fixed paraffin-embedded lung adenocarcinoma samples.

Bmc Cancer
Bonfiglio, Silvia S; Vanni, Irene I; Rossella, Valeria V; Truini, Anna A; Lazarevic, Dejan D; Dal Bello, Maria Giovanna MG; Alama, Angela A; Mora, Marco M; Rijavec, Erika E; Genova, Carlo C; Cittaro, Davide D; Grossi, Francesco F; Coco, Simona S
Publication Date: 2016-08-30

Variant appearance in text: KIT: 157G>C
PubMed Link: 27578032
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients.

British Journal Of Cancer
Wong, S Q SQ; Fellowes, A A; Doig, K K; Ellul, J J; Bosma, T J TJ; Irwin, D D; Vedururu, R R; Tan, A Y-C AY; Weiss, J J; Chan, K S KS; Lucas, M M; Thomas, D M DM; Dobrovic, A A; Parisot, J P JP; Fox, S B SB
Publication Date: 2015-04-14

Variant appearance in text: KIT: 157G>C; Glu53Gln
PubMed Link: 25742471
Variant Present in the following documents:
  • bjc201580x7.xls, sheet 1
View BVdb publication page