KIT c.148G>C ;(p.V50L)

Variant ID: 4-55561758-G-C

NM_000222.2(KIT):c.148G>C;(p.V50L)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: KIT: V50L
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



Ultraviolet radiation drives mutations in a subset of mucosal melanomas.

Nature Communications
Mundra, Piyushkumar A PA; Dhomen, Nathalie N; Rodrigues, Manuel M; Mikkelsen, Lauge Hjorth LH; Cassoux, Nathalie N; Brooks, Kelly K; Valpione, Sara S; Reis-Filho, Jorge S JS; Heegaard, Steffen S; Stern, Marc-Henri MH; Roman-Roman, Sergio S; Marais, Richard R
Publication Date: 2021-01-11

Variant appearance in text: KIT: V50L
PubMed Link: 33431815
Variant Present in the following documents:
  • 41467_2020_20432_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



KIT and Melanoma: Biological Insights and Clinical Implications.

Yonsei Medical Journal
Pham, Duc Daniel M DDM; Guhan, Samantha S; Tsao, Hensin H
Publication Date: 2020-07

Variant appearance in text: KIT: V50L
PubMed Link: 32608199
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reassessing the role of high dose cytarabine and mitoxantrone in relapsed/refractory acute myeloid leukemia.

Oncotarget
Canaani, Jonathan J; Nagar, Meital M; Heering, Gabriel G; Gefen, Chen C; Yerushalmi, Ronit R; Shem-Tov, Noga N; Volchek, Yulia Y; Merkel, Drorit D; Avigdor, Abraham A; Shimoni, Avichai A; Amariglio, Ninette N; Rechavi, Gidi G; Nagler, Arnon A
Publication Date: 2020-06-09

Variant appearance in text: KIT: V50L
PubMed Link: 32577167
Variant Present in the following documents:
  • Main text
  • oncotarget-11-2233.pdf
View BVdb publication page



Targeted next generation sequencing of mucosal melanomas identifies frequent NF1 and RAS mutations.

Oncotarget
Cosgarea, Ioana I; Ugurel, Selma S; Sucker, Antje A; Livingstone, Elisabeth E; Zimmer, Lisa L; Ziemer, Mirjana M; Utikal, Jochen J; Mohr, Peter P; Pfeiffer, Christiane C; Pföhler, Claudia C; Hillen, Uwe U; Horn, Susanne S; Schadendorf, Dirk D; Griewank, Klaus G KG; Roesch, Alexander A
Publication Date: 2017-06-20

Variant appearance in text: KIT: V50L
PubMed Link: 28380455
Variant Present in the following documents:
  • Main text
  • oncotarget-08-40683.pdf
View BVdb publication page



Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease.

Neurobiology Of Aging
Lubbe, S J SJ; Escott-Price, V V; Brice, A A; Gasser, T T; Pittman, A M AM; Bras, J J; Hardy, J J; Heutink, P P; Wood, N M NM; Singleton, A B AB; Grosset, D G DG; Carroll, C B CB; Law, M H MH; Demenais, F F; Iles, M M MM; , ; Bishop, D T DT; Newton-Bishop, J J; Williams, N M NM; Morris, H R HR; ,
Publication Date: 2016-12

Variant appearance in text: KIT: V50L
PubMed Link: 27640074
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page