PTEN c.66C>G ;(p.D22E)

Variant ID: 10-89624292-C-G

NM_000314.4(PTEN):c.66C>G;(p.D22E)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Effects of ASD-associated daf-18/PTEN missense variants on C. elegans dauer development.

Micropublication Biology
González-Cavazos, Carolina C; Cao, Mengyi M; Wong, Wan-Rong WR; Chai, Cynthia C; Sternberg, Paul P
Publication Date: 2019-10-16

Variant appearance in text: N/A
PubMed Link: 32550443
Variant Present in the following documents:
View BVdb publication page



Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction.

Nature Communications
Post, Kathryn L KL; Belmadani, Manuel M; Ganguly, Payel P; Meili, Fabian F; Dingwall, Riki R; McDiarmid, Troy A TA; Meyers, Warren M WM; Herrington, Caitlin C; Young, Barry P BP; Callaghan, Daniel B DB; Rogic, Sanja S; Edwards, Matthew M; Niciforovic, Ana A; Cau, Alessandro A; Rankin, Catharine H CH; O'Connor, Timothy P TP; Bamji, Shernaz X SX; Loewen, Christopher J R CJR; Allan, Douglas W DW; Pavlidis, Paul P; Haas, Kurt K
Publication Date: 2020-04-29

Variant appearance in text: PTEN: D22E
PubMed Link: 32350270
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_15943.pdf
View BVdb publication page



Autism Spectrum Disorder and miRNA: An Overview of Experimental Models.

Brain Sciences
Schepici, Giovanni G; Cavalli, Eugenio E; Bramanti, Placido P; Mazzon, Emanuela E
Publication Date: 2019-10-03

Variant appearance in text: PTEN: Asp22Glu
PubMed Link: 31623367
Variant Present in the following documents:
  • Main text
  • brainsci-09-00265.pdf
View BVdb publication page



Autism-associated missense genetic variants impact locomotion and neurodevelopment in Caenorhabditis elegans.

Human Molecular Genetics
Wong, Wan-Rong WR; Brugman, Katherine I KI; Maher, Shayda S; Oh, Jun Young JY; Howe, Kevin K; Kato, Mihoko M; Sternberg, Paul W PW
Publication Date: 2019-07-01

Variant appearance in text: PTEN: 66C>G; D22E
PubMed Link: 31220273
Variant Present in the following documents:
  • Main text
View BVdb publication page



PTEN gene mutations in patients with macrocephaly and classic autism: A systematic review.

Medical Journal Of The Islamic Republic Of Iran
Zahedi Abghari, Fateme F; Moradi, Yousef Y; Akouchekian, Mansoureh M
Publication Date: 2019

Variant appearance in text:
PubMed Link: 31086789
Variant Present in the following documents:
  • Main text
  • mjiri-33-10.pdf
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: D22E
PubMed Link: 27548698
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.

Journal Of Medical Genetics
Spinelli, Laura L; Black, Fiona M FM; Berg, Jonathan N JN; Eickholt, Britta J BJ; Leslie, Nicholas R NR
Publication Date: 2015-02

Variant appearance in text: PTEN: 66C>G
PubMed Link: 25527629
Variant Present in the following documents:
  • jmedgenet-2014-102803-s1.pdf
View BVdb publication page



Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Buxbaum, Joseph D JD; Cai, Guiqing G; Chaste, Pauline P; Nygren, Gudrun G; Goldsmith, Juliet J; Reichert, Jennifer J; Anckarsäter, Henrik H; Rastam, Maria M; Smith, Christopher J CJ; Silverman, Jeremy M JM; Hollander, Eric E; Leboyer, Marion M; Gillberg, Christopher C; Verloes, Alain A; Betancur, Catalina C
Publication Date: 2007-06-05

Variant appearance in text:
PubMed Link: 17427195
Variant Present in the following documents:
  • Main text
View BVdb publication page