BLM c.2603C>G ;(p.P868R)

Variant ID: 15-91326099-C-G

NM_000057.2(BLM):c.2603C>G;(p.P868R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: BLM: 2603C>G; P868R; rs2227935
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



ACE2 and FURIN variants are potential predictors of SARS-CoV-2 outcome: A time to implement precision medicine against COVID-19.

Heliyon
Al-Mulla, Fahd F; Mohammad, Anwar A; Al Madhoun, Ashraf A; Haddad, Dania D; Ali, Hamad H; Eaaswarkhanth, Muthukrishnan M; John, Sumi Elsa SE; Nizam, Rasheeba R; Channanath, Arshad A; Abu-Farha, Mohamed M; Ahmad, Rasheed R; Abubaker, Jehad J; Thanaraj, Thangavel Alphonse TA
Publication Date: 2021-02

Variant appearance in text: rs2227935
PubMed Link: 33532652
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Continuity and Admixture in the Last Five Millennia of Levantine History from Ancient Canaanite and Present-Day Lebanese Genome Sequences.

American Journal Of Human Genetics
Haber, Marc M; Doumet-Serhal, Claude C; Scheib, Christiana C; Xue, Yali Y; Danecek, Petr P; Mezzavilla, Massimo M; Youhanna, Sonia S; Martiniano, Rui R; Prado-Martinez, Javier J; Szpak, MichaƂ M; Matisoo-Smith, Elizabeth E; Schutkowski, Holger H; Mikulski, Richard R; Zalloua, Pierre P; Kivisild, Toomas T; Tyler-Smith, Chris C
Publication Date: 2017-08-03

Variant appearance in text: rs2227935
PubMed Link: 28757201
Variant Present in the following documents:
  • mmc2.pdf
  • mmc1.pdf
View BVdb publication page