HP c.211A>G ;(p.K71E)

Variant ID: 16-72091311-A-G

NM_005143.3(HP):c.211A>G;(p.K71E)

This variant was identified in 4 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: 211A>G
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: HP: K71E
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Hsp70/Hsp90 chaperone machinery is involved in the assembly of the purinosome.

Proceedings Of The National Academy Of Sciences Of The United States Of America
French, Jarrod B JB; Zhao, Hong H; An, Songon S; Niessen, Sherry S; Deng, Yijun Y; Cravatt, Benjamin F BF; Benkovic, Stephen J SJ
Publication Date: 2013-02-12

Variant appearance in text: HP: K71E
PubMed Link: 23359685
Variant Present in the following documents:
  • Main text
View BVdb publication page



Improving the catalytic activity of hyperthermophilic Pyrococcus horikoshii prolidase for detoxification of organophosphorus nerve agents over a broad range of temperatures.

Archaea (Vancouver, B.C.)
Theriot, Casey M CM; Semcer, Rebecca L RL; Shah, Saumil S SS; Grunden, Amy M AM
Publication Date: 2011

Variant appearance in text: HP: K71E
PubMed Link: 22162664
Variant Present in the following documents:
  • Main text
  • ARCH2011-565127.pdf
View BVdb publication page