PTEN c.320A>C ;(p.D107A)

Variant ID: 10-89692836-A-C

NM_000314.4(PTEN):c.320A>C;(p.D107A)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Whole-genome sequencing of glioblastoma reveals enrichment of non-coding constraint mutations in known and novel genes.

Genome Biology
Sakthikumar, Sharadha S; Roy, Ananya A; Haseeb, Lulu L; Pettersson, Mats E ME; Sundström, Elisabeth E; Marinescu, Voichita D VD; Lindblad-Toh, Kerstin K; Forsberg-Nilsson, Karin K
Publication Date: 2020-06-09

Variant appearance in text: PTEN: D107A
PubMed Link: 32513296
Variant Present in the following documents:
  • 13059_2020_2035_MOESM3_ESM.xlsx, sheet 1
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: D107A
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: D107A
PubMed Link: 27548698
Variant Present in the following documents:
  • Main text
  • pone.0160972.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: D107A
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page