HP c.682A>G ;(p.K228E)

Variant ID: 16-72094250-A-G

NM_005143.3(HP):c.682A>G;(p.K228E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: HP: 682A>G; Lys228Glu
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Lethal factor of anthrax toxin binds monomeric form of protective antigen.

Biochemical And Biophysical Research Communications
Chvyrkova, Irina I; Zhang, Xuejun C XC; Terzyan, Simon S
Publication Date: 2007-08-31

Variant appearance in text: HP: K228E
PubMed Link: 17617379
Variant Present in the following documents:
  • Main text
View BVdb publication page