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RET c.95C>T ;(p.S32L)
Variant ID: 10-43595928-C-T
NM_020975.4(
RET
):c.95C>T;(p.S32L)
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:
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: S32L; rs76764689
PubMed Link:
35865963
Variant Present in the following documents:
Table12.xlsx, sheet 1
View BVdb publication page
Sequence characterization of RET in 117 Chinese Hirschsprung disease families identifies a large burden of de novo and parental mosaic mutations.
Orphanet Journal Of Rare Diseases
Jiang, Qian Q; Wang, Yang Y; Li, Qi Q; Zhang, Zhen Z; Xiao, Ping P; Wang, Hui H; Liu, Na N; Wu, Jian J; Zhang, Feng F; Chakravarti, Aravinda A; Cai, Wei W; Li, Long L
Publication Date: 2019-10-30
Variant appearance in text: RET: Ser32Leu
PubMed Link:
31666091
Variant Present in the following documents:
Main text
13023_2019_Article_1194.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: S32L; rs76764689
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: S32L
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: S32L
PubMed Link:
10618407
Variant Present in the following documents:
Main text
View BVdb publication page