RET c.2914A>G ;(p.R972G)

Variant ID: 10-43619231-A-G

NM_020975.4(RET):c.2914A>G;(p.R972G)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


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: R972G; rs76534745
PubMed Link: 35865963
Variant Present in the following documents:
  • Table12.xlsx, sheet 1
View BVdb publication page



The RET gene encodes RET protein, which triggers intracellular signaling pathways for enteric neurogenesis, and RET mutation results in Hirschsprung's disease.

Aims Neuroscience
Bhattarai, Chacchu C; Poudel, Phanindra Prasad PP; Ghosh, Arnab A; Kalthur, Sneha Guruprasad SG
Publication Date: 2022

Variant appearance in text: RET: R972G
PubMed Link: 35434281
Variant Present in the following documents:
  • Main text
  • neurosci-09-01-008.pdf
View BVdb publication page



Roles of the RET Proto-oncogene in Cancer and Development.

Jma Journal
Takahashi, Masahide M; Kawai, Kumi K; Asai, Naoya N
Publication Date: 2020-07-15

Variant appearance in text: RET: Arg972Gly
PubMed Link: 33150251
Variant Present in the following documents:
  • Main text
  • 2433-3298-3-3-0175.pdf
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: RET: R972G
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Pilot Study of a Next-Generation Sequencing-Based Targeted Anticancer Therapy in Refractory Solid Tumors at a Korean Institution.

Plos One
Park, Hyung Soon HS; Lim, Sun Min SM; Kim, Sora S; Kim, Sangwoo S; Kim, Hye Ryun HR; Kwack, KyuBum K; Lee, Min Goo MG; Kim, Joo-Hang JH; Moon, Yong Wha YW
Publication Date: 2016

Variant appearance in text: RET: Arg972Gly
PubMed Link: 27105424
Variant Present in the following documents:
  • Main text
  • pone.0154133.pdf
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: R972G; rs76534745
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: R972G
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Familial multinodular goiter syndrome with papillary thyroid carcinomas: mutational analysis of the associated genes in 5 cases from 1 Chinese family.

Bmc Endocrine Disorders
Liao, Shunyao S; Song, Wenzhong W; Liu, Yunqiang Y; Deng, Shaoping S; Liang, Yaming Y; Tang, Zhenlin Z; Huang, Jiyuan J; Dong, Dandan D; Xu, Gang G
Publication Date: 2013-10-21

Variant appearance in text: RET: R972G; rs76534745
PubMed Link: 24144365
Variant Present in the following documents:
  • Main text
  • 1472-6823-13-48.pdf
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: RET: R972G
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



The energy landscape analysis of cancer mutations in protein kinases.

Plos One
Dixit, Anshuman A; Verkhivker, Gennady M GM
Publication Date: 2011

Variant appearance in text: RET: R972G
PubMed Link: 21998754
Variant Present in the following documents:
View BVdb publication page