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PAH c.46T>C ;(p.S16P)
Variant ID: 12-103310863-A-G
NM_000277.1(
PAH
):c.46T>C;(p.S16P)
This variant was identified in 6 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Systematic analysis of the intersection of disease mutations with protein modifications.
Bmc Medical Genomics
Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F
Publication Date: 2019-07-25
Variant appearance in text: PAH: S16P
PubMed Link:
31345222
Variant Present in the following documents:
12920_2019_543_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page
Bending of DNA duplexes with mutation motifs.
Dna Research : An International Journal For Rapid Publication Of Reports On Genes And Genomes
Růžička, Michal M; Souček, Přemysl P; Kulhánek, Petr P; Radová, Lenka L; Fajkusová, Lenka L; Réblová, Kamila K
Publication Date: 2019-08-01
Variant appearance in text: PAH: 46T>C; Ser16Pro
PubMed Link:
31230075
Variant Present in the following documents:
Main text
dsz013.pdf
View BVdb publication page
Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.
Molecular & Cellular Proteomics : Mcp
Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N
Publication Date: 2016-11
Variant appearance in text: PAH: 46T>C; Ser16Pro
PubMed Link:
27697855
Variant Present in the following documents:
10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5
10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 4
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: PAH: S16P
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page
PhosphoSitePlus, 2014: mutations, PTMs and recalibrations.
Nucleic Acids Research
Hornbeck, Peter V PV; Zhang, Bin B; Murray, Beth B; Kornhauser, Jon M JM; Latham, Vaughan V; Skrzypek, Elzbieta E
Publication Date: 2015-01
Variant appearance in text: PAH: S16P
PubMed Link:
25514926
Variant Present in the following documents:
Main text
gku1267.pdf
View BVdb publication page
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Nucleic Acids Research
Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH
Publication Date: 2009-03
Variant appearance in text: PAH: S16P
PubMed Link:
19139070
Variant Present in the following documents:
Main text
gkn1008.pdf
gkn1008_nar-01723-s-2008-File009.xls, sheet 1
View BVdb publication page