ESR1 c.1622T>G ;(p.L541R)

Variant ID: 6-152419935-T-G

NM_000125.3(ESR1):c.1622T>G;(p.L541R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Publication Date: 2018

Variant appearance in text: ESR1: L541R
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 1
  • pone.0196434.s001.xlsx, sheet 2
View BVdb publication page



Fluctuations of an exposed π-helix involved in lipoxygenase substrate recognition.

Biochemistry
Bradshaw, Miles D MD; Gaffney, Betty J BJ
Publication Date: 2014-08-12

Variant appearance in text: ESR: L541R
PubMed Link: 25036469
Variant Present in the following documents:
  • Main text
View BVdb publication page