NOC2L c.553_554delinsGC ;(p.R185A)

Variant ID: 1-891528-CG-GC

NM_015658.3(NOC2L):c.553_554delinsGC;(p.R185A)

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:

Genetic and biochemical characterization of human AP endonuclease 1 mutants deficient in nucleotide incision repair activity.

Plos One
Gelin, Aurore A; Redrejo-Rodríguez, Modesto M; Laval, Jacques J; Fedorova, Olga S OS; Saparbaev, Murat M; Ishchenko, Alexander A AA
Publication Date: 2010-08-17

Variant appearance in text: NIR: R185A
PubMed Link: 20808930
Variant Present in the following documents:
  • Main text
  • pone.0012241.pdf
View BVdb publication page