KDR c.2638C>T ;(p.R880*)

Variant ID: 4-55962486-G-A

NM_002253.2(KDR):c.2638C>T;(p.R880*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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: KDR: 2638C>T; R880*
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Transcriptomic characterization and innovative molecular classification of clear cell renal cell carcinoma in the Chinese population.

Cancer Cell International
Zhao, Qiang Q; Xue, Jia J; Hong, Baoan B; Qian, Wubin W; Liu, Tiezhu T; Fan, Bin B; Cai, Jie J; Ji, Yongpeng Y; Liu, Jia J; Yang, Yong Y; Li, Qixiang Q; Guo, Sheng S; Zhang, Ning N
Publication Date: 2020

Variant appearance in text: KDR: R880X
PubMed Link: 32982583
Variant Present in the following documents:
  • 12935_2020_1552_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging
Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D
Publication Date: 2020-07-07

Variant appearance in text: KDR: 2638C>T
PubMed Link: 32639949
Variant Present in the following documents:
  • aging-12-103115-s013..xlsx, sheet 1
View BVdb publication page



Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Reuter, Miriam S MS; Jobling, Rebekah R; Chaturvedi, Rajiv R RR; Manshaei, Roozbeh R; Costain, Gregory G; Heung, Tracy T; Curtis, Meredith M; Hosseini, S Mohsen SM; Liston, Eriskay E; Lowther, Chelsea C; Oechslin, Erwin E; Sticht, Heinrich H; Thiruvahindrapuram, Bhooma B; Mil, Spencer van SV; Wald, Rachel M RM; Walker, Susan S; Marshall, Christian R CR; Silversides, Candice K CK; Scherer, Stephen W SW; Kim, Raymond H RH; Bassett, Anne S AS
Publication Date: 2019-04

Variant appearance in text: KDR: 2638C>T
PubMed Link: 30232381
Variant Present in the following documents:
  • Main text
  • 41436_2018_Article_260.pdf
View BVdb publication page



Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine
Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R
Publication Date: 2017

Variant appearance in text: KDR: R880*
PubMed Link: 29263839
Variant Present in the following documents:
  • 41525_2017_32_MOESM8_ESM.xlsx, sheet 6
View BVdb publication page