PTEN c.564T>A ;(p.Y188*)

Variant ID: 10-89711946-T-A

NM_000314.4(PTEN):c.564T>A;(p.Y188*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: PTEN: 564T>A; Tyr188Ter; rs606231170
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 3
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: PTEN: 564T>A; Tyr188Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Spatiotemporal dynamics of clonal selection and diversification in normal endometrial epithelium.

Nature Communications
Yamaguchi, Manako M; Nakaoka, Hirofumi H; Suda, Kazuaki K; Yoshihara, Kosuke K; Ishiguro, Tatsuya T; Yachida, Nozomi N; Saito, Kyota K; Ueda, Haruka H; Sugino, Kentaro K; Mori, Yutaro Y; Yamawaki, Kaoru K; Tamura, Ryo R; Revathidevi, Sundaramoorthy S; Motoyama, Teiichi T; Tainaka, Kazuki K; Verhaak, Roel G W RGW; Inoue, Ituro I; Enomoto, Takayuki T
Publication Date: 2022-02-17

Variant appearance in text: PTEN: Y188X
PubMed Link: 35177608
Variant Present in the following documents:
  • 41467_2022_Article_28568.pdf
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: PTEN: Y188*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page