PARP1 c.168C>T ;(p.C56=)

Variant ID: 1-226590033-G-A

NM_001618.3(PARP1):c.168C>T;(p.C56=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: PARP1: C56=
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



New Thalidomide-Resembling Dicarboximides Target ABC50 Protein and Show Antileukemic and Immunomodulatory Activities.

Biomolecules
Cieślak, Marcin M; Kaźmierczak-Barańska, Julia J; Królewska-Golińska, Karolina K; Napiórkowska, Mariola M; Stukan, Iga I; Wojda, Urszula U; Nawrot, Barbara B
Publication Date: 2019-09-04

Variant appearance in text: PARP: C56C
PubMed Link: 31487824
Variant Present in the following documents:
  • biomolecules-09-00446.pdf
View BVdb publication page



Spatiotemporal dynamics of homologous recombination repair at single collapsed replication forks.

Nature Communications
Whelan, Donna R DR; Lee, Wei Ting C WTC; Yin, Yandong Y; Ofri, Dylan M DM; Bermudez-Hernandez, Keria K; Keegan, Sarah S; Fenyo, David D; Rothenberg, Eli E
Publication Date: 2018-09-24

Variant appearance in text: PARP: C56C
PubMed Link: 30250272
Variant Present in the following documents:
  • 41467_2018_6435_MOESM2_ESM.pdf
View BVdb publication page