PTEN c.165G>C ;(p.R55S)

Variant ID: 10-89685270-G-C

NM_000314.4(PTEN):c.165G>C;(p.R55S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.

Human Mutation
Chen, Hannah Jinlian HJ; Romigh, Todd T; Sesock, Kaitlin K; Eng, Charis C
Publication Date: 2017-10

Variant appearance in text: PTEN: Arg55Ser
PubMed Link: 28677221
Variant Present in the following documents:
  • Main text
  • HUMU-38-1372.pdf
View BVdb publication page



Mutational landscapes of tongue carcinoma reveal recurrent mutations in genes of therapeutic and prognostic relevance.

Genome Medicine
Vettore, Andre Luiz AL; Ramnarayanan, Kalpana K; Poore, Gregory G; Lim, Kevin K; Ong, Choon Kiat CK; Huang, Kie Kyon KK; Leong, Hui Sun HS; Chong, Fui Teen FT; Lim, Tony Kiat-Hon TK; Lim, Weng Khong WK; Cutcutache, Ioana I; Mcpherson, John R JR; Suzuki, Yuka Y; Zhang, Shenli S; Skanthakumar, Thakshayeni T; Wang, Weining W; Tan, Daniel S W DS; Cho, Byoung Chul BC; Teh, Bin Tean BT; Rozen, Steve S; Tan, Patrick P; Iyer, N Gopalakrishna NG
Publication Date: 2015-09-23

Variant appearance in text: PTEN: R55S
PubMed Link: 26395002
Variant Present in the following documents:
  • 13073_2015_219_MOESM12_ESM.xls, sheet 1
View BVdb publication page