KIT c.1652C>A ;(p.P551H)

Variant ID: 4-55593586-C-A

NM_000222.2(KIT):c.1652C>A;(p.P551H)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology
Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X
Publication Date: 2023

Variant appearance in text: KIT: P551H
PubMed Link: 36742322
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types.

Genome Medicine
Bao, Riyue R; Stapor, Daniel D; Luke, Jason J JJ
Publication Date: 2020-10-27

Variant appearance in text: KIT: P551H
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
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: KIT: P551H
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Computational development of a molecular-based approach to improve risk stratification of endometrial cancer patients.

Oncotarget
Torricelli, Federica F; Nicoli, Davide D; Bellazzi, Riccardo R; Ciarrocchi, Alessia A; Farnetti, Enrico E; Mastrofilippo, Valentina V; Zamponi, Raffaella R; La Sala, Giovanni Battista GB; Casali, Bruno B; Mandato, Vincenzo Dario VD
Publication Date: 2018-05-22

Variant appearance in text: KIT: 1652C>A
PubMed Link: 29876005
Variant Present in the following documents:
  • oncotarget-09-25517-s001.pdf
View BVdb publication page



Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors.

Nature Genetics
Goriely, Anne A; Hansen, Ruth M S RM; Taylor, Indira B IB; Olesen, Inge A IA; Jacobsen, Grete Krag GK; McGowan, Simon J SJ; Pfeifer, Susanne P SP; McVean, Gilean A T GA; Rajpert-De Meyts, Ewa E; Wilkie, Andrew O M AO
Publication Date: 2009-11

Variant appearance in text: KIT: P551H
PubMed Link: 19855393
Variant Present in the following documents:
  • NIHMS27834-supplement-2.xls, sheet 1
View BVdb publication page