PTEN c.154G>A ;(p.D52N)

Variant ID: 10-89653856-G-A

NM_000314.4(PTEN):c.154G>A;(p.D52N)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Whole-exome sequencing analysis identifies distinct mutational profile and novel prognostic biomarkers in primary gastrointestinal diffuse large B-cell lymphoma.

Experimental Hematology & Oncology
Li, Shan-Shan SS; Zhai, Xiao-Hui XH; Liu, Hai-Ling HL; Liu, Ting-Zhi TZ; Cao, Tai-Yuan TY; Chen, Dong-Mei DM; Xiao, Le-Xin LX; Gan, Xiao-Qin XQ; Cheng, Ke K; Hong, Wan-Jia WJ; Huang, Yan Y; Lian, Yi-Fan YF; Xiao, Jian J
Publication Date: 2022-10-15

Variant appearance in text: PTEN: 154G>A
PubMed Link: 36243813
Variant Present in the following documents:
  • 40164_2022_325_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Multiregional Sequencing of IDH-WT Glioblastoma Reveals High Genetic Heterogeneity and a Dynamic Evolutionary History.

Cancers
Franceschi, Sara S; Civita, Prospero P; Pasqualetti, Francesco F; Lessi, Francesca F; Modena, Martina M; Barachini, Serena S; Morelli, Mariangela M; Santonocito, Orazio O; Vannozzi, Riccardo R; Pilkington, Geoffrey J GJ; Ortenzi, Valerio V; Naccarato, Antonio Giuseppe AG; Aretini, Paolo P; Mazzanti, Chiara Maria CM
Publication Date: 2021-04-23

Variant appearance in text: PTEN: Asp52Asn
PubMed Link: 33922652
Variant Present in the following documents:
  • Main text
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: PTEN: D52N
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page



Tumor genome analysis includes germline genome: are we ready for surprises?

International Journal Of Cancer
Catenacci, Daniel V T DV; Amico, Andrea L AL; Nielsen, Sarah M SM; Geynisman, Daniel M DM; Rambo, Brittany B; Carey, George B GB; Gulden, Cassandra C; Fackenthal, Jim J; Marsh, Robert D RD; Kindler, Hedy L HL; Olopade, Olufunmilayo I OI
Publication Date: 2015-04-01

Variant appearance in text: PTEN: D52N
PubMed Link: 25123297
Variant Present in the following documents:
  • Main text
  • ijc0136-1559.pdf
  • ijc0136-1559-sd1.pdf
View BVdb publication page



Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: PTEN: D52N
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page