KDR c.1615G>A ;(p.G539R)

Variant ID: 4-55972029-C-T

NM_002253.2(KDR):c.1615G>A;(p.G539R)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Extensive intratumor regional epigenetic heterogeneity in clear cell renal cell carcinoma targets kidney enhancers and is associated with poor outcome.

Clinical Epigenetics
El Khoury, Louis Y LY; Pan, Xiaoyu X; Hlady, Ryan A RA; Wagner, Ryan T RT; Shaikh, Shafiq S; Wang, Liguo L; Humphreys, Mitchell R MR; Castle, Erik P EP; Stanton, Melissa L ML; Ho, Thai H TH; Robertson, Keith D KD
Publication Date: 2023-04-29

Variant appearance in text: KDR: G539R
PubMed Link: 37120552
Variant Present in the following documents:
  • 13148_2023_1471_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: KDR: G539R; rs55716939
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Molecular Modeling and Functional Analysis of Exome Sequencing-Derived Variants of Unknown Significance Identify a Novel, Constitutively Active FGFR2 Mutant in Cholangiocarcinoma.

Jco Precision Oncology
Egan, Jan B JB; Marks, David L DL; Hogenson, Tara L TL; Vrabel, Anne M AM; Sigafoos, Ashley N AN; Tolosa, Ezequiel J EJ; Carr, Ryan M RM; Safgren, Stephanie L SL; Hesles, Elisa Enriquez EE; Almada, Luciana L LL; Romecin-Duran, Paola A PA; Iguchi, Eriko E; Ala'Aldeen, Aryan A; Kocher, Jean-Pierre A JA; Oliver, Gavin R GR; Prodduturi, Naresh N; Mead, David W DW; Hossain, Asif A; Huneke, Norine E NE; Tagtow, Colleen M CM; Ailawadhi, Sikander S; Ansell, Stephen M SM; Banck, Michaela S MS; Bryce, Alan H AH; Carballido, Estrella M EM; Chanan-Khan, Asher A AA; Curtis, Kelly K KK; Resnik, Ernesto E; Gawryletz, Chelsea D CD; Go, Ronald S RS; Halfdanarson, Thorvardur R TR; Ho, Thai H TH; Joseph, Richard W RW; Kapoor, Prashant P; Mansfield, Aaron S AS; Meurice, Nathalie N; Nageswara Rao, Amulya A AA; Nowakowski, Grzegorz S GS; Pardanani, Animesh A; Parikh, Sameer A SA; Cheville, John C JC; Feldman, Andrew L AL; Ramanathan, Ramesh K RK; Robinson, Steven I SI; Tibes, Raoul R; Finnes, Heidi D HD; McCormick, Jennifer B JB; McWilliams, Robert R RR; Jatoi, Aminah A; Patnaik, Mrinal M MM; Silva, Alvin C AC; Wieben, Eric D ED; McAllister, Tammy M TM; Rumilla, Kandelaria M KM; Kerr, Sarah E SE; Lazaridis, Konstantinos N KN; Farrugia, Gianrico G; Stewart, A Keith AK; Clark, Karl J KJ; Kennedy, Eileen J EJ; Klee, Eric W EW; Borad, Mitesh J MJ; Fernandez-Zapico, Martin E ME
Publication Date: 2017

Variant appearance in text: KDR: G539R
PubMed Link: 30761385
Variant Present in the following documents:
  • Main text
  • PO.17.00018.pdf
View BVdb publication page



Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell
Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD
Publication Date: 2018-05-14

Variant appearance in text: KDR: G539R
PubMed Link: 29657128
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: KDR: G539R
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s4.xls, sheet 1
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: KDR: 1615G>A; G539R; rs55716939
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05

Variant appearance in text: KDR: G539R; rs55716939
PubMed Link: 27270441
Variant Present in the following documents:
  • onc2016172x3.xls, sheet 3
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: KDR: G539R; rs55716939
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: KDR: G539R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014

Variant appearance in text: KDR: G539R; rs55716939
PubMed Link: 24728327
Variant Present in the following documents:
  • pone.0094554.s002.xlsx, sheet 1
View BVdb publication page



Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11

Variant appearance in text: KDR: G539R; rs55716939
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page