EGR1 c.193_195delinsTGG ;(p.S65W)

Variant ID: 5-137801643-AGC-TGG

NM_001964.2(EGR1):c.193_195delinsTGG;(p.S65W)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Large scale genotype- and phenotype-driven machine learning in Von Hippel-Lindau disease.

Human Mutation
Chiorean, Andreea A; Farncombe, Kirsten M KM; Delong, Sean S; Andric, Veronica V; Ansar, Safa S; Chan, Clarissa C; Clark, Kaitlin K; Danos, Arpad M AM; Gao, Yizhuo Y; Giles, Rachel H RH; Goldenberg, Anna A; Jani, Payal P; Krysiak, Kilannin K; Kujan, Lynzey L; Macpherson, Samantha S; Maher, Eamonn R ER; McCoy, Liam G LG; Salama, Yasser Y; Saliba, Jason J; Sheta, Lana L; Griffith, Malachi M; Griffith, Obi L OL; Erdman, Lauren L; Ramani, Arun A; Kim, Raymond H RH
Publication Date: 2022-09

Variant appearance in text: 225: Ser65Trp
PubMed Link: 35475554
Variant Present in the following documents:
  • HUMU-43-1268-s002.xlsx, sheet 1
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Structure of HIV-1 gp41 with its membrane anchors targeted by neutralizing antibodies.

Elife
Caillat, Christophe C; Guilligay, Delphine D; Torralba, Johana J; Friedrich, Nikolas N; Nieva, Jose L JL; Trkola, Alexandra A; Chipot, Christophe J CJ; Dehez, François L FL; Weissenhorn, Winfried W
Publication Date: 2021-04-19

Variant appearance in text: 225: S65W
PubMed Link: 33871352
Variant Present in the following documents:
  • Main text
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Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.

Plos One
Fields, Francisco R FR; Suresh, Niraja N; Hiller, Morgan M; Freed, Stefan D SD; Haldar, Kasturi K; Lee, Shaun W SW
Publication Date: 2020

Variant appearance in text: 225: S65W
PubMed Link: 33151962
Variant Present in the following documents:
  • pone.0234100.s006.xlsx, sheet 1
View BVdb publication page