GAA c.1142C>T ;(p.T381I)

Variant ID: 17-78082354-C-T

NM_000152.3(GAA):c.1142C>T;(p.T381I)

This variant was identified in 3 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: 1142C>T; Thr381Ile
PubMed Link: 32433464
Variant Present in the following documents:
  • 41467_2020_16399_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Synonymous mutations make dramatic contributions to fitness when growth is limited by a weak-link enzyme.

Plos Genetics
Kristofich, JohnCarlo J; Morgenthaler, Andrew B AB; Kinney, Wallis R WR; Ebmeier, Christopher C CC; Snyder, Daniel J DJ; Old, William M WM; Cooper, Vaughn S VS; Copley, Shelley D SD
Publication Date: 2018-08

Variant appearance in text: GAA: T381I
PubMed Link: 30148850
Variant Present in the following documents:
  • Main text
  • pgen.1007615.pdf
View BVdb publication page



Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics
Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ
Publication Date: 2017-02-15

Variant appearance in text: GAA: 1142C>T
PubMed Link: 28202015
Variant Present in the following documents:
  • 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page