PTEN c.440A>G ;(p.K147R)

Variant ID: 10-89692956-A-G

NM_000314.4(PTEN):c.440A>G;(p.K147R)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics
G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A
Publication Date: 2022

Variant appearance in text: PTEN: K147R
PubMed Link: 36561320
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
  • Table2.xlsx, sheet 6
View BVdb publication page



Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Waks, Adrienne G AG; Kim, Dewey D; Jain, Esha E; Snow, Craig C; Kirkner, Gregory J GJ; Rosenberg, Shoshana M SM; Oh, Coyin C; Poorvu, Philip D PD; Ruddy, Kathryn J KJ; Tamimi, Rulla M RM; Peppercorn, Jeffrey J; Schapira, Lidia L; Borges, Virginia F VF; Come, Steven E SE; Brachtel, Elena F EF; Warner, Ellen E; Collins, Laura C LC; Partridge, Ann H AH; Wagle, Nikhil N
Publication Date: 2022-06-01

Variant appearance in text: PTEN: K147R
PubMed Link: 35101884
Variant Present in the following documents:
  • ccr-21-2572_supplementary_table_s1_supps1.xlsx, sheet 1
  • ccr-21-2572_supplementary_table_s1_supps1.xlsx, sheet 2
View BVdb publication page



Divergent Mechanisms Activating RAS and Small GTPases Through Post-translational Modification.

Frontiers In Molecular Biosciences
Osaka, Natsuki N; Hirota, Yoshihisa Y; Ito, Doshun D; Ikeda, Yoshiki Y; Kamata, Ryo R; Fujii, Yuki Y; Chirasani, Venkat R VR; Campbell, Sharon L SL; Takeuchi, Koh K; Senda, Toshiya T; Sasaki, Atsuo T AT
Publication Date: 2021

Variant appearance in text: PTEN: K147R
PubMed Link: 34307463
Variant Present in the following documents:
  • Main text
  • fmolb-08-707439.pdf
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: PTEN: K147R
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



One-Tube-Only Standardized Site-Directed Mutagenesis: An Alternative Approach to Generate Amino Acid Substitution Collections.

Plos One
Mingo, Janire J; Erramuzpe, Asier A; Luna, Sandra S; Aurtenetxe, Olaia O; Amo, Laura L; Diez, Ibai I; Schepens, Jan T G JT; Hendriks, Wiljan J A J WJ; Cortés, Jesús M JM; Pulido, Rafael R
Publication Date: 2016

Variant appearance in text: PTEN: K147R
PubMed Link: 27548698
Variant Present in the following documents:
  • Main text
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: K147R
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page