ESR1 c.458A>G ;(p.N153S)

Variant ID: 6-152163737-A-G

NM_000125.3(ESR1):c.458A>G;(p.N153S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Synthetic enforcement of STING signaling in cancer cells appropriates the immune microenvironment for checkpoint inhibitor therapy.

Science Advances
Vornholz, Larsen L; Isay, Sophie E SE; Kurgyis, Zsuzsanna Z; Strobl, Daniel C DC; Loll, Patricia P; Mosa, Mohammed H MH; Luecken, Malte D MD; Sterr, Michael M; Lickert, Heiko H; Winter, Christof C; Greten, Florian R FR; Farin, Henner F HF; Theis, Fabian J FJ; Ruland, Jürgen J
Publication Date: 2023-03-17

Variant appearance in text: ESR: N153S
PubMed Link: 36921054
Variant Present in the following documents:
  • sciadv.add8564_sm.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: ESR1: N153S; rs764125878
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



A Mutation Outside the Dimerization Domain Causing Atypical STING-Associated Vasculopathy With Onset in Infancy.

Frontiers In Immunology
Saldanha, Rohit G RG; Balka, Katherine R KR; Davidson, Sophia S; Wainstein, Brynn K BK; Wong, Melanie M; Macintosh, Rebecca R; Loo, Christine K C CKC; Weber, Martin A MA; Kamath, Vasanth V; , ; , ; Moghaddas, Fiona F; De Nardo, Dominic D; Gray, Paul Edgar PE; Masters, Seth Lucian SL
Publication Date: 2018

Variant appearance in text: ESR: N153S
PubMed Link: 30038614
Variant Present in the following documents:
  • Main text
  • fimmu-09-01535.pdf
View BVdb publication page