KIT c.2441C>T ;(p.A814V)

Variant ID: 4-55599315-C-T

NM_000222.2(KIT):c.2441C>T;(p.A814V)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Infrequent RAS mutation is not associated with specific histological phenotype in gliomas.

Bmc Cancer
Makino, Yasuhide Y; Arakawa, Yoshiki Y; Yoshioka, Ema E; Shofuda, Tomoko T; Minamiguchi, Sachiko S; Kawauchi, Takeshi T; Tanji, Masahiro M; Kanematsu, Daisuke D; Nonaka, Masahiro M; Okita, Yoshiko Y; Kodama, Yoshinori Y; Mano, Masayuki M; Hirose, Takanori T; Mineharu, Yohei Y; Miyamoto, Susumu S; Kanemura, Yonehiro Y
Publication Date: 2021-09-15

Variant appearance in text: KIT: A814V
PubMed Link: 34525976
Variant Present in the following documents:
  • Main text
  • 12885_2021_Article_8733.pdf
View BVdb publication page



Secondary resistance to anti-EGFR therapy by transcriptional reprogramming in patient-derived colorectal cancer models.

Genome Medicine
Vangala, Deepak D; Ladigan, Swetlana S; Liffers, Sven T ST; Noseir, Soha S; Maghnouj, Abdelouahid A; Götze, Tina-Maria TM; Verdoodt, Berlinda B; Klein-Scory, Susanne S; Godfrey, Laura L; Zowada, Martina K MK; Huerta, Mario M; Edelstein, Daniel L DL; de Villarreal, Jaime Martinez JM; Marqués, Miriam M; Kumbrink, Jörg J; Jung, Andreas A; Schiergens, Tobias T; Werner, Jens J; Heinemann, Volker V; Stintzing, Sebastian S; Lindoerfer, Doris D; Mansmann, Ulrich U; Pohl, Michael M; Teschendorf, Christian C; Bernhardt, Christiane C; Wolters, Heiner H; Stern, Josef J; Usta, Selami S; Viebahn, Richard R; Admard, Jacob J; Casadei, Nicolas N; Fröhling, Stefan S; Ball, Claudia R CR; Siveke, Jens T JT; Glimm, Hanno H; Tannapfel, Andrea A; Schmiegel, Wolff W; Hahn, Stephan A SA
Publication Date: 2021-07-16

Variant appearance in text: KIT: 2441C>T; Ala814Val
PubMed Link: 34271981
Variant Present in the following documents:
  • 13073_2021_926_MOESM4_ESM.xlsx, sheet 3
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: A814V
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Publication Date: 2018

Variant appearance in text: KIT: A814V
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 1
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 2
View BVdb publication page



Megakaryocytes in Myeloproliferative Neoplasms Have Unique Somatic Mutations.

The American Journal Of Pathology
Guo, Belinda B BB; Allcock, Richard J RJ; Mirzai, Bob B; Malherbe, Jacques A JA; Choudry, Fizzah A FA; Frontini, Mattia M; Chuah, Hun H; Liang, James J; Kavanagh, Simon E SE; Howman, Rebecca R; Ouwehand, Willem H WH; Fuller, Kathryn A KA; Erber, Wendy N WN
Publication Date: 2017-07

Variant appearance in text: KIT: Ala814Val
PubMed Link: 28502479
Variant Present in the following documents:
  • Main text
View BVdb publication page



Use of dedicated gene panel sequencing using next generation sequencing to improve the personalized care of lung cancer.

Oncotarget
Kaderbhai, Coureche Guillaume CG; Boidot, Romain R; Beltjens, Françoise F; Chevrier, Sandy S; Arnould, Laurent L; Favier, Laure L; Lagrange, Aurélie A; Coudert, Bruno B; Ghiringhelli, François F
Publication Date: 2016-04-26

Variant appearance in text: KIT: A814V
PubMed Link: 27027238
Variant Present in the following documents:
  • oncotarget-07-24860-s001.pdf
View BVdb publication page



Systemic mast cell activation disease: the role of molecular genetic alterations in pathogenesis, heritability and diagnostics.

Immunology
Haenisch, Britta B; Nöthen, Markus M MM; Molderings, Gerhard J GJ
Publication Date: 2012-11

Variant appearance in text: KIT: A814V
PubMed Link: 22957768
Variant Present in the following documents:
  • Main text
View BVdb publication page