PARP1 c.80G>A ;(p.S27N)

Variant ID: 1-226595551-C-T

NM_001618.3(PARP1):c.80G>A;(p.S27N)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Lupus-associated endogenous retroviral LTR polymorphism and epigenetic imprinting promote HRES-1/RAB4 expression and mTOR activation.

Jci Insight
Godavarthy, Aparna A; Kelly, Ryan R; Jimah, John J; Beckford, Miguel M; Caza, Tiffany T; Fernandez, David D; Huang, Nick N; Duarte, Manuel M; Lewis, Joshua J; Fadel, Hind J HJ; Poeschla, Eric M EM; Banki, Katalin K; Perl, Andras A
Publication Date: 2020-01-16

Variant appearance in text: PARP1: S27N
PubMed Link: 31805010
Variant Present in the following documents:
  • Main text
View BVdb publication page