RET c.2081G>A ;(p.R694Q)

Variant ID: 10-43610129-G-A

NM_020975.4(RET):c.2081G>A;(p.R694Q)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.

Frontiers In Immunology
Lin, Jing J; Liu, Jun J; Hao, Shi-Guang SG; Lan, Bin B; Zheng, Xiao-Bin XB; Xiong, Jia-Ni JN; Zhang, Ying-Qian YQ; Gao, Xuan X; Chen, Chuan-Ben CB; Chen, Ling L; Huang, Yu-Fang YF; Luo, Hong H; Yi, Yu-Ting YT; Yi, Xin X; Lu, Jian-Ping JP; Zheng, Xiong-Wei XW; Chen, Gang G; Wang, Xue-Feng XF; Chen, Yu Y
Publication Date: 2022

Variant appearance in text: RET: 2081G>A; R694Q
PubMed Link: 36505399
Variant Present in the following documents:
  • Table_2.xlsx, sheet 2
View BVdb publication page



Whole exome sequencing of high-risk neuroblastoma identifies novel non-synonymous variants.

Plos One
Przybyła, Weronika W; Gjersvoll Paulsen, Kirsti Marie KM; Mishra, Charitra Kumar CK; Nygård, Ståle S; Engebretsen, Solveig S; Ruud, Ellen E; Trøen, Gunhild G; Beiske, Klaus K; Baumbusch, Lars Oliver LO
Publication Date: 2022

Variant appearance in text: RET: 2081G>A; Arg694Gln
PubMed Link: 36037157
Variant Present in the following documents:
  • pone.0273280.pdf
View BVdb publication page



Comprehensive Assessment of Indian Variations in the Druggable Kinome Landscape Highlights Distinct Insights at the Sequence, Structure and Pharmacogenomic Stratum.

Frontiers In Pharmacology
Panda, Gayatri G; Mishra, Neha N; Sharma, Disha D; Kutum, Rintu R; Bhoyar, Rahul C RC; Jain, Abhinav A; Imran, Mohamed M; Senthilvel, Vigneshwar V; Divakar, Mohit Kumar MK; Mishra, Anushree A; Garg, Parth P; Banerjee, Priyanka P; Sivasubbu, Sridhar S; Scaria, Vinod V; Ray, Arjun A
Publication Date: 2022

Variant appearance in text: RET: R694Q; rs141185224
PubMed Link: 35865963
Variant Present in the following documents:
  • Table12.xlsx, sheet 1
View BVdb publication page



Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Scientific Reports
Guindalini, Rodrigo Santa Cruz RSC; Viana, Danilo Vilela DV; Kitajima, João Paulo Fumio Whitaker JPFW; Rocha, Vinícius Marques VM; López, Rossana Verónica Mendoza RVM; Zheng, Yonglan Y; Freitas, Érika É; Monteiro, Fabiola Paoli Mendes FPM; Valim, André A; Schlesinger, David D; Kok, Fernando F; Olopade, Olufunmilayo I OI; Folgueira, Maria Aparecida Azevedo Koike MAAK
Publication Date: 2022-03-09

Variant appearance in text: RET: 2081G>A
PubMed Link: 35264596
Variant Present in the following documents:
  • 41598_2022_7383_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Paired comparisons of mutational profiles before and after brachytherapy in asian uveal melanoma patients.

Scientific Reports
Lee, Woo Seung WS; Lee, Junwon J; Choi, Jun Jeong JJ; Kang, Hyun Goo HG; Lee, Sung Chul SC; Kim, Ju Han JH
Publication Date: 2021-09-20

Variant appearance in text: RET: R694Q
PubMed Link: 34545149
Variant Present in the following documents:
  • 41598_2021_98084_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports
von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I
Publication Date: 2021-03-05

Variant appearance in text: RET: 2081G>A; Arg694Gln; rs141185224
PubMed Link: 33674644
Variant Present in the following documents:
  • 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: RET: 2081G>A; Arg694Gln; rs141185224
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.

Aging
Chen, Bo B; Zhang, Guochun G; Li, Xuerui X; Ren, Chongyang C; Wang, Yulei Y; Li, Kai K; Mok, Hsiaopei H; Cao, Li L; Wen, Lingzhu L; Jia, Minghan M; Li, Cheukfai C; Guo, Liping L; Wei, Guangnan G; Lin, Jiali J; Li, Yingzi Y; Zhang, Yuchen Y; Han-Zhang, Han H; Liu, Jing J; Lizaso, Analyn A; Liao, Ning N
Publication Date: 2020-02-24

Variant appearance in text: RET: 2081G>A; Arg694Gln; rs141185224
PubMed Link: 32091409
Variant Present in the following documents:
  • aging-12-102783-s001..xlsx, sheet 1
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: RET: 2081G>A; Arg694Gln
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.

Journal Of The American Society Of Nephrology : Jasn
Heidet, Laurence L; Morinière, Vincent V; Henry, Charline C; De Tomasi, Lara L; Reilly, Madeline Louise ML; Humbert, Camille C; Alibeu, Olivier O; Fourrage, Cécile C; Bole-Feysot, Christine C; Nitschké, Patrick P; Tores, Frédéric F; Bras, Marc M; Jeanpierre, Marc M; Pietrement, Christine C; Gaillard, Dominique D; Gonzales, Marie M; Novo, Robert R; Schaefer, Elise E; Roume, Joëlle J; Martinovic, Jelena J; Malan, Valérie V; Salomon, Rémi R; Saunier, Sophie S; Antignac, Corinne C; Jeanpierre, Cécile C
Publication Date: 2017-10

Variant appearance in text: RET: Arg694Gln
PubMed Link: 28566479
Variant Present in the following documents:
  • Main text
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: HSCR1: R694Q; rs141185224
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling.

European Journal Of Human Genetics : Ejhg
Widowati, Titis T; Melhem, Shamiram S; Patria, Suryono Y SY; de Graaf, Bianca M BM; Sinke, Richard J RJ; Viel, Martijn M; Dijkhuis, Jos J; Sadewa, Ahmad H AH; Purwohardjono, Rochadi R; Soenarto, Yati Y; Hofstra, Robert Mw RM; Sribudiani, Yunia Y
Publication Date: 2016-06

Variant appearance in text: RET: 2081G>A
PubMed Link: 26395553
Variant Present in the following documents:
  • Main text
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: RET: R694Q
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page