KIT c.2848G>A ;(p.V950M)

Variant ID: 4-55604640-G-A

NM_000222.2(KIT):c.2848G>A;(p.V950M)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


RNF213 gene mutation in circulating tumor DNA detected by targeted next-generation sequencing in the assisted discrimination of early-stage lung cancer from pulmonary nodules.

Thoracic Cancer
Jiang, Ning N; Zhou, Jie J; Zhang, Wenhao W; Li, Peichao P; Liu, Yu Y; Shi, Hubo H; Zhang, Chengke C; Wang, Yunshan Y; Zhou, Chengjun C; Peng, Chuanliang C; Zhang, Weiquan W; Hao, Yingtao Y; Sun, Qifeng Q; Li, Yuliang Y; Zhao, Xiaogang X
Publication Date: 2021-01

Variant appearance in text: KIT: V950M; rs146374006
PubMed Link: 33200540
Variant Present in the following documents:
  • TCA-12-181-s002.xlsx, sheet 1
View BVdb publication page



Monitoring of clonal evolution of acute myeloid leukemia identifies the leukemia subtype, clinical outcome and potential new drug targets for post-remission strategies or relapse.

Haematologica
Onecha, Esther E; Rapado, Inmaculada I; Luz Morales, María M; Carreño-Tarragona, Gonzalo G; Martinez-Sanchez, Pilar P; Gutierrez, Xabier X; Sáchez Pina, José María JM; Linares, María M; Gallardo, Miguel M; Martinez-López, Joaquín J; Ayala, Rosa R
Publication Date: 2021-09-01

Variant appearance in text: KIT: 2848G>A; Val950Met
PubMed Link: 32732356
Variant Present in the following documents:
  • 2020_254623_ONECHA_SUPPL.pdf
View BVdb publication page



Targeted deep sequencing from multiple sources demonstrates increased NOTCH1 alterations in lung cancer patient plasma.

Cancer Medicine
Liao, Yuwei Y; Ma, Zhaokui Z; Zhang, Yu Y; Li, Dan D; Lv, Dekang D; Chen, Zhisheng Z; Li, Peiying P; Ai-Dherasi, Aisha A; Zheng, Feng F; Tian, Jichao J; Zou, Kun K; Wang, Yue Y; Wang, Dongxia D; Cordova, Miguel M; Zhou, Huan H; Li, Xiuhua X; Liu, Dan D; Yu, Ruofei R; Zhang, Qingzheng Q; Zhang, Xiaolong X; Zhang, Jian J; Zhang, Xuehong X; Zhang, Xia X; Li, Yulong Y; Shao, Yanyan Y; Song, Luyao L; Liu, Ruimei R; Wang, Yichen Y; Sufiyan, Sufiyan S; Liu, Quentin Q; Owen, Gareth I GI; Li, Zhiguang Z; Chen, Jun J
Publication Date: 2019-09

Variant appearance in text: KIT: V950M
PubMed Link: 31369215
Variant Present in the following documents:
  • CAM4-8-5673-s008.xlsx, sheet 5
View BVdb publication page