GAA c.1067A>G ;(p.D356G)

Variant ID: 17-78082200-A-G

NM_000152.3(GAA):c.1067A>G;(p.D356G)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.

Nature Communications
Nichols, Caitlin A CA; Gibson, William J WJ; Brown, Meredith S MS; Kosmicki, Jack A JA; Busanovich, John P JP; Wei, Hope H; Urbanski, Laura M LM; Curimjee, Naomi N; Berger, Ashton C AC; Gao, Galen F GF; Cherniack, Andrew D AD; Dhe-Paganon, Sirano S; Paolella, Brenton R BR; Beroukhim, Rameen R
Publication Date: 2020-05-20

Variant appearance in text: GAA: 1067A>G
PubMed Link: 32433464
Variant Present in the following documents:
  • 41467_2020_16399_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Mice lacking dystrophin or alpha sarcoglycan spontaneously develop embryonal rhabdomyosarcoma with cancer-associated p53 mutations and alternatively spliced or mutant Mdm2 transcripts.

The American Journal Of Pathology
Fernandez, Karen K; Serinagaoglu, Yelda Y; Hammond, Sue S; Martin, Laura T LT; Martin, Paul T PT
Publication Date: 2010-01

Variant appearance in text: GAA: D356G
PubMed Link: 20019182
Variant Present in the following documents:
  • Main text
View BVdb publication page