GAA c.1090C>T ;(p.P364S)

Variant ID: 17-78082302-C-T

NM_000152.3(GAA):c.1090C>T;(p.P364S)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Stop Codon Context-Specific Induction of Translational Readthrough.

Biomolecules
Schilff, Mirco M; Sargsyan, Yelena Y; Hofhuis, Julia J; Thoms, Sven S
Publication Date: 2021-07-09

Variant appearance in text: GAA: 1090C>T
PubMed Link: 34356630
Variant Present in the following documents:
  • Main text
  • biomolecules-11-01006.pdf
View BVdb publication page



A pediatric brain tumor atlas of genes deregulated by somatic genomic rearrangement.

Nature Communications
Zhang, Yiqun Y; Chen, Fengju F; Donehower, Lawrence A LA; Scheurer, Michael E ME; Creighton, Chad J CJ
Publication Date: 2021-02-10

Variant appearance in text: GAA: Pro364Ser
PubMed Link: 33568653
Variant Present in the following documents:
  • 41467_2021_21081_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



K-Ras-Activated Cells Can Develop into Lung Tumors When Runx3-Mediated Tumor Suppressor Pathways Are Abrogated.

Molecules And Cells
Lee, You-Soub YS; Lee, Ja-Yeol JY; Song, Soo-Hyun SH; Kim, Da-Mi DM; Lee, Jung-Won JW; Chi, Xin-Zi XZ; Ito, Yoshiaki Y; Bae, Suk-Chul SC
Publication Date: 2020-10-31

Variant appearance in text: GAA: 1090C>T
PubMed Link: 33115981
Variant Present in the following documents:
  • molce-43-889_Supple.xlsx, sheet 1
View BVdb publication page



Integrative molecular profiling identifies a novel cluster of estrogen receptor-positive breast cancer in very young women.

Cancer Science
Park, Charny C; Yoon, Kyong-Ah KA; Kim, Jihyun J; Park, In Hae IH; Park, Soo Jin SJ; Kim, Min Kyeong MK; Jang, Wooyeong W; Cho, Soo Young SY; Park, Boyoung B; Kong, Sun-Young SY; Lee, Eun Sook ES
Publication Date: 2019-05

Variant appearance in text: GAA: 1090C>T
PubMed Link: 30811755
Variant Present in the following documents:
  • CAS-110-1760-s002.xlsx, sheet 2
View BVdb publication page



A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget
Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2014-05-30

Variant appearance in text: GAA: P364S
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page