PARP1 c.1148C>T ;(p.S383F)

Variant ID: 1-226570748-G-A

NM_001618.3(PARP1):c.1148C>T;(p.S383F)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.

International Journal Of Cancer
Potjer, Thomas P TP; Bollen, Sander S; Grimbergen, Anneliese J E M AJEM; van Doorn, Remco R; Gruis, Nelleke A NA; van Asperen, Christi J CJ; Hes, Frederik J FJ; van der Stoep, Nienke N; ,
Publication Date: 2019-05-15

Variant appearance in text: rs3219062
PubMed Link: 30414346
Variant Present in the following documents:
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs3219062
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs3219062
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Association between genetic variants in DNA and histone methylation and telomere length.

Plos One
Kim, Sangmi S; Parks, Christine G CG; Xu, Zongli Z; Carswell, Gleta G; DeRoo, Lisa A LA; Sandler, Dale P DP; Taylor, Jack A JA
Publication Date: 2012

Variant appearance in text: rs3219062
PubMed Link: 22792358
Variant Present in the following documents:
  • Main text
  • pone.0040504.pdf
View BVdb publication page