PALB2 c.523_524delinsGC ;(p.R175A)

Variant ID: 16-23647343-CT-GC

NM_024675.3(PALB2):c.523_524delinsGC;(p.R175A)

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:

Novel RNA and DNA strand exchange activity of the PALB2 DNA binding domain and its critical role for DNA repair in cells.

Elife
Deveryshetty, Jaigeeth J; Peterlini, Thibaut T; Ryzhikov, Mikhail M; Brahiti, Nadine N; Dellaire, Graham G; Masson, Jean-Yves JY; Korolev, Sergey S
Publication Date: 2019-04-29

Variant appearance in text: PALB2: R175A
PubMed Link: 31017574
Variant Present in the following documents:
  • Main text
  • elife-44063.pdf
View BVdb publication page