PARP1 c.50G>C ;(p.G17A)

Variant ID: 1-226595581-C-G

NM_001618.3(PARP1):c.50G>C;(p.G17A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Nature Medicine
Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS
Publication Date: 2019-12

Variant appearance in text: PARP1: Gly17Ala
PubMed Link: 31768066
Variant Present in the following documents:
  • NIHMS1541314-supplement-1541314_SourceDataExtFig8.xlsx, sheet 1
View BVdb publication page



Leukemia-associated RhoGEF (LARG) is a novel RhoGEF in cytokinesis and required for the proper completion of abscission.

Molecular Biology Of The Cell
Martz, Matthew K MK; Grabocka, Elda E; Beeharry, Neil N; Yen, Timothy J TJ; Wedegaertner, Philip B PB
Publication Date: 2013-09

Variant appearance in text: PARP: G17A
PubMed Link: 23885121
Variant Present in the following documents:
  • Main text
  • 2785.pdf
View BVdb publication page



The small GTPase RhoA localizes to the nucleus and is activated by Net1 and DNA damage signals.

Plos One
Dubash, Adi D AD; Guilluy, Christophe C; Srougi, Melissa C MC; Boulter, Etienne E; Burridge, Keith K; GarcĂ­a-Mata, Rafael R
Publication Date: 2011-02-24

Variant appearance in text: PARP: G17A
PubMed Link: 21390328
Variant Present in the following documents:
  • pone.0017380.pdf
View BVdb publication page