ESR1 c.1049C>T ;(p.A350V)

Variant ID: 6-152265596-C-T

NM_000125.3(ESR1):c.1049C>T;(p.A350V)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Inflammasomes and the IL-1 Family in Bone Homeostasis and Disease.

Current Osteoporosis Reports
Tseng, Hsu-Wen HW; Samuel, Selwin Gabriel SG; Schroder, Kate K; Lévesque, Jean-Pierre JP; Alexander, Kylie A KA
Publication Date: 2022-06

Variant appearance in text: ESR: A350V
PubMed Link: 35567665
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: ESR1: A350V
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Proteogenomic Analysis of Protein Sequence Alterations in Breast Cancer Cells.

Scientific Reports
Lazar, Iulia M IM; Karcini, Arba A; Ahuja, Shreya S; Estrada-Palma, Carly C
Publication Date: 2019-07-17

Variant appearance in text: ESR1: 1049C>T
PubMed Link: 31316139
Variant Present in the following documents:
  • 41598_2019_46897_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: ESR1: A350V
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 1
View BVdb publication page