KIT c.1151G>A ;(p.G384D)

Variant ID: 4-55575625-G-A

NM_000222.2(KIT):c.1151G>A;(p.G384D)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Single-cell profiling of multiple myeloma reveals molecular response to FGFR3 inhibitor despite clinical progression.

Cold Spring Harbor Molecular Case Studies
Croucher, Danielle C DC; Devasia, Anup Joseph AJ; Abelman, Dor D DD; Mahdipour-Shirayeh, Ali A; Li, Zhihua Z; Erdmann, Natalie N; Tiedemann, Rodger R; Pugh, Trevor J TJ; Trudel, Suzanne S
Publication Date: 2023-01-13

Variant appearance in text: KIT: G384D
PubMed Link: 36639200
Variant Present in the following documents:
  • MCS006249Cro.pdf
View BVdb publication page



FLT3-ITD transduces autonomous growth signals during its biosynthetic trafficking in acute myelogenous leukemia cells.

Scientific Reports
Yamawaki, Kouhei K; Shiina, Isamu I; Murata, Takatsugu T; Tateyama, Satoru S; Maekawa, Yutarou Y; Niwa, Mariko M; Shimonaka, Motoyuki M; Okamoto, Koji K; Suzuki, Toshihiro T; Nishida, Toshirou T; Abe, Ryo R; Obata, Yuuki Y
Publication Date: 2021-11-22

Variant appearance in text: KIT: G384D
PubMed Link: 34811450
Variant Present in the following documents:
  • 41598_2021_Article_2221.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: 1151G>A; Gly384Asp
PubMed Link: 34271981
Variant Present in the following documents:
  • 13073_2021_926_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: KIT: 1151G>A; G384D
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
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: KIT: Gly384Asp
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM14_ESM.xlsx, sheet 1
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



N822K- or V560G-mutated KIT activation preferentially occurs in lipid rafts of the Golgi apparatus in leukemia cells.

Cell Communication And Signaling : Ccs
Obata, Yuuki Y; Hara, Yasushi Y; Shiina, Isamu I; Murata, Takatsugu T; Tasaki, Yasutaka Y; Suzuki, Kyohei K; Ito, Keiichi K; Tsugawa, Shou S; Yamawaki, Kouhei K; Takahashi, Tsuyoshi T; Okamoto, Koji K; Nishida, Toshirou T; Abe, Ryo R
Publication Date: 2019-09-04

Variant appearance in text: KIT: G384D
PubMed Link: 31484543
Variant Present in the following documents:
  • 12964_2019_Article_426.pdf
View BVdb publication page



Oncogenic signaling by Kit tyrosine kinase occurs selectively on the Golgi apparatus in gastrointestinal stromal tumors.

Oncogene
Obata, Y Y; Horikawa, K K; Takahashi, T T; Akieda, Y Y; Tsujimoto, M M; Fletcher, J A JA; Esumi, H H; Nishida, T T; Abe, R R
Publication Date: 2017-06-29

Variant appearance in text: KIT: G384D
PubMed Link: 28192400
Variant Present in the following documents:
  • onc2016519a.pdf
View BVdb publication page



Oncogenic Kit signals on endolysosomes and endoplasmic reticulum are essential for neoplastic mast cell proliferation.

Nature Communications
Obata, Yuuki Y; Toyoshima, Shota S; Wakamatsu, Ei E; Suzuki, Shunichi S; Ogawa, Shuhei S; Esumi, Hiroyasu H; Abe, Ryo R
Publication Date: 2014-12-10

Variant appearance in text: KIT: G384D
PubMed Link: 25493654
Variant Present in the following documents:
  • ncomms6715.pdf
View BVdb publication page



Analysis of Somatic Mutations in Cancer: Molecular Mechanisms of Activation in the ErbB Family of Receptor Tyrosine Kinases.

Cancers
Shih, Andrew J AJ; Telesco, Shannon E SE; Radhakrishnan, Ravi R
Publication Date: 2011-03

Variant appearance in text: KIT: G384D
PubMed Link: 21701703
Variant Present in the following documents:
  • cancers-03-01195.pdf
View BVdb publication page