ENG c.2T>G ;(p.M1?)

Variant ID: 9-130616633-A-C

NM_001114753.2(ENG):c.2T>G;(p.M1?)

This variant was identified in 3 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: ENG: 2T>G; Met1Arg
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Hybrid Assembly and Annotation of the Genome of the Indian Punica granatum, a Superfood.

Frontiers In Genetics
Usha, Talambedu T; Middha, Sushil Kumar SK; Babu, Dinesh D; Goyal, Arvind Kumar AK; Das, Anupam J AJ; Saini, Deepti D; Sarangi, Aditya A; Krishnamurthy, Venkatesh V; Prasannakumar, Mothukapalli Krishnareddy MK; Saini, Deepak Kumar DK; Sidhalinghamurthy, Kora Rudraiah KR
Publication Date: 2022

Variant appearance in text: END: 2T>G
PubMed Link: 35646087
Variant Present in the following documents:
  • Table4.xlsx, sheet 1
View BVdb publication page



Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Journal Of Medical Genetics
Abdalla, S A SA; Letarte, M M
Publication Date: 2006-02

Variant appearance in text:
PubMed Link: 15879500
Variant Present in the following documents:
  • Main text
View BVdb publication page