PALB2 c.130_131delinsGC ;(p.I44A)

Variant ID: 16-23649251-AT-GC

NM_024675.3(PALB2):c.130_131delinsGC;(p.I44A)

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:

A PALB2-interacting domain in RNF168 couples homologous recombination to DNA break-induced chromatin ubiquitylation.

Elife
Luijsterburg, Martijn S MS; Typas, Dimitris D; Caron, Marie-Christine MC; Wiegant, Wouter W WW; van den Heuvel, Diana D; Boonen, Rick A RA; Couturier, Anthony M AM; Mullenders, Leon H LH; Masson, Jean-Yves JY; van Attikum, Haico H
Publication Date: 2017-02-27

Variant appearance in text: PALB2: I44A
PubMed Link: 28240985
Variant Present in the following documents:
  • Main text
  • elife-20922.pdf
View BVdb publication page