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RET c.2488G>A ;(p.G830R)
Variant ID: 10-43615074-G-A
NM_020975.4(
RET
):c.2488G>A;(p.G830R)
This variant was identified in 9 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: RET: G830R
PubMed Link:
36072793
Variant Present in the following documents:
Table_2.xlsx, sheet 1
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: G830R; rs200127630
PubMed Link:
35865963
Variant Present in the following documents:
Table12.xlsx, sheet 1
View BVdb publication page
Genomic profiling of Chinese patients with urothelial carcinoma.
Bmc Cancer
Yang, Bo B; Zhao, Xiao X; Wan, Chong C; Ma, Xin X; Niu, Shaoxi S; Guo, Aitao A; Wang, Jieli J; Wang, Jinliang J; Sun, Decong D; Jiao, Shunchang S
Publication Date: 2021-02-15
Variant appearance in text: RET: 2488G>A; Gly830Arg; rs200127630
PubMed Link:
33588785
Variant Present in the following documents:
12885_2021_7829_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page
Correlation of mutational landscape and survival outcome of peripheral T-cell lymphomas.
Experimental Hematology & Oncology
Ye, Yingying Y; Ding, Ning N; Mi, Lan L; Shi, Yunfei Y; Liu, Weiping W; Song, Yuqin Y; Shu, Shaokun S; Zhu, Jun J
Publication Date: 2021-02-05
Variant appearance in text: RET: 2488G>A; G830R
PubMed Link:
33546774
Variant Present in the following documents:
40164_2021_200_MOESM2_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: 2488G>A; G830R; rs200127630
PubMed Link:
32091409
Variant Present in the following documents:
aging-12-102783-s001..xlsx, sheet 1
View BVdb publication page
Mutation spectrums of TSC1 and TSC2 in Chinese women with lymphangioleiomyomatosis (LAM).
Plos One
Liu, Jie J; Zhao, Weiwei W; Ou, Xiaohua X; Zhao, Zhen Z; Hu, Changming C; Sun, Mingming M; Liu, Feifei F; Deng, Junhao J; Gu, Weili W; An, Jiaying J; Zhang, Qingling Q; Zhang, Xiaoxian X; Xie, Jiaxing J; Li, Shiyue S; Chen, Rongchang R; Yu, Shihui S; Zhong, Nanshan N
Publication Date: 2019
Variant appearance in text: RET: 2488G>A; Gly830Arg; rs200127630
PubMed Link:
31856217
Variant Present in the following documents:
pone.0226400.s004.xlsx, sheet 6
pone.0226400.s012.xlsx, sheet 1
pone.0226400.s010.xlsx, sheet 1
pone.0226400.s004.xlsx, sheet 8
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: RET: G830R
PubMed Link:
27527004
Variant Present in the following documents:
srep31321-s4.xls, sheet 1
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: G830R; rs200127630
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: RET: G830R
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page