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RET c.1182C>G ;(p.N394K)
Variant ID: 10-43604597-C-G
NM_020975.4(
RET
):c.1182C>G;(p.N394K)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A single RET mutation in Hirschsprung disease induces intestinal aganglionosis via a dominant-negative mechanism.
Cellular And Molecular Gastroenterology And Hepatology
Sunardi, Mukhamad M; Ito, Keisuke K; Sato, Yuya Y; Uesaka, Toshihiro T; Iwasaki, Mitsuhiro M; Enomoto, Hideki H
Publication Date: 2022-12-12
Variant appearance in text: RET: N394K
PubMed Link:
36521661
Variant Present in the following documents:
Main text
main.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: N394K
PubMed Link:
35865963
Variant Present in the following documents:
Table12.xlsx, 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: N394K
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: N394K
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page
A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Bolk, S S; Pelet, A A; Hofstra, R M RM; Angrist, M M; Salomon, R R; Croaker, D D; Buys, C H CH; Lyonnet, S S; Chakravarti, A A
Publication Date: 2000-01-04
Variant appearance in text: RET: N394K
PubMed Link:
10618407
Variant Present in the following documents:
Main text
View BVdb publication page