CNTROB c.1316G>A ;(p.R439Q)

Variant ID: 17-7846713-G-A

NM_053051.3(CNTROB):c.1316G>A;(p.R439Q)

This variant was identified in 3 publications

View GRCh38 version.



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

Publications:

PARP1 Inhibitor and Trabectedin Combination Does Not Increase Tumor Mutational Burden in Advanced Sarcomas-A Preclinical and Translational Study.

Cancers
Pignochino, Ymera Y; Crisafulli, Giovanni G; Giordano, Giorgia G; Merlini, Alessandra A; Berrino, Enrico E; Centomo, Maria Laura ML; Chiabotto, Giulia G; Brusco, Silvia S; Basiricò, Marco M; Maldi, Elena E; Pisacane, Alberto A; Leuci, Valeria V; Sangiolo, Dario D; D'Ambrosio, Lorenzo L; Aglietta, Massimo M; Kasper, Bernd B; Bardelli, Alberto A; Grignani, Giovanni G
Publication Date: 2021-12-15

Variant appearance in text: CNTROB: R439Q
PubMed Link: 34944915
Variant Present in the following documents:
  • Main text
  • cancers-13-06295.pdf
View BVdb publication page


PARP1 Inhibitor and Trabectedin Combination Does Not Increase Tumor Mutational Burden in Advanced Sarcomas-A Preclinical and Translational Study.

Cancers
Pignochino, Ymera Y; Crisafulli, Giovanni G; Giordano, Giorgia G; Merlini, Alessandra A; Berrino, Enrico E; Centomo, Maria Laura ML; Chiabotto, Giulia G; Brusco, Silvia S; Basiricò, Marco M; Maldi, Elena E; Pisacane, Alberto A; Leuci, Valeria V; Sangiolo, Dario D; D'Ambrosio, Lorenzo L; Aglietta, Massimo M; Kasper, Bernd B; Bardelli, Alberto A; Grignani, Giovanni G
Publication Date: 2021-12-15

Variant appearance in text: CNTROB: R439Q
PubMed Link: 34944915
Variant Present in the following documents:
  • Main text
  • cancers-13-06295.pdf
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: rs35421969
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page


GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: CNTROB: R439Q
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page