TYR c.842A>G ;(p.E281G)

Variant ID: 11-88924392-A-G

NM_000372.4(TYR):c.842A>G;(p.E281G)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Bio-Based Valorization of Lignin-Derived Phenolic Compounds: A Review.

Biomolecules
Martínková, Ludmila L; Grulich, Michal M; Pátek, Miroslav M; Křístková, Barbora B; Winkler, Margit M
Publication Date: 2023-04-22

Variant appearance in text: TYR: E281G
PubMed Link: 37238587
Variant Present in the following documents:
  • Main text
  • biomolecules-13-00717.pdf
View BVdb publication page



Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: TYR: E281G; rs146036358
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs146036358
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease.

Neurobiology Of Aging
Lubbe, S J SJ; Escott-Price, V V; Brice, A A; Gasser, T T; Pittman, A M AM; Bras, J J; Hardy, J J; Heutink, P P; Wood, N M NM; Singleton, A B AB; Grosset, D G DG; Carroll, C B CB; Law, M H MH; Demenais, F F; Iles, M M MM; , ; Bishop, D T DT; Newton-Bishop, J J; Williams, N M NM; Morris, H R HR; ,
Publication Date: 2016-12

Variant appearance in text: TYR: E281G
PubMed Link: 27640074
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page