PTEN c.164G>A ;(p.R55K)

Variant ID: 10-89653866-G-A

NM_000314.4(PTEN):c.164G>A;(p.R55K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


De novo mutations in folate-related genes associated with common developmental disorders.

Computational And Structural Biotechnology Journal
Luo, Tengfei T; Li, Kuokuo K; Ling, Zhengbao Z; Zhao, Guihu G; Li, Bin B; Wang, Zheng Z; Wang, Xiaomeng X; Han, Ying Y; Xia, Lu L; Zhang, Yi Y; Zhou, Qiao Q; Fang, Zhenghuan Z; Wang, Yijing Y; Chen, Qian Q; Zhou, Xun X; Pan, Hongxu H; Zhao, Yuwen Y; Wang, Yige Y; Dong, Lijie L; Huang, Yuanfeng Y; Hu, Zhengmao Z; Pan, Qian Q; Xia, Kun K; Li, Jinchen J
Publication Date: 2021

Variant appearance in text: PTEN: 164G>A; R55Q
PubMed Link: 33777337
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
View BVdb publication page



Genetic diversity in melanoma metastases from a patient with xeroderma pigmentosum.

The Journal Of Investigative Dermatology
Wang, Yun Y; Tan, Xiao Hui XH; DiGiovanna, John J JJ; Lee, Chyi-Chia Richard CC; Stern, Jere B JB; Raffeld, Mark M; Jaffe, Elaine S ES; Kraemer, Kenneth H KH
Publication Date: 2010-04

Variant appearance in text: PTEN: Arg55Lys
PubMed Link: 19956187
Variant Present in the following documents:
  • Main text
View BVdb publication page