PTEN c.1003C>A ;(p.R335=)

Variant ID: 10-89720852-C-A

NM_000314.4(PTEN):c.1003C>A;(p.R335=)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Monitoring of Leukemia Clones in B-cell Acute Lymphoblastic Leukemia at Diagnosis and During Treatment by Single-cell DNA Amplicon Sequencing.

Hemasphere
Meyers, Sarah S; Alberti-Servera, Llucia L; Gielen, Olga O; Erard, Margot M; Swings, Toon T; De Bie, Jolien J; Michaux, Lucienne L; Dewaele, Barbara B; Boeckx, Nancy N; Uyttebroeck, Anne A; De Keersmaecker, Kim K; Maertens, Johan J; Segers, Heidi H; Cools, Jan J; Demeyer, Sofie S
Publication Date: 2022-04

Variant appearance in text: PTEN: 1003C>A; R335=; rs121909231
PubMed Link: 35291210
Variant Present in the following documents:
  • hs9-6-e700-s004.xlsx, sheet 12
  • hs9-6-e700-s004.xlsx, sheet 9
  • hs9-6-e700-s004.xlsx, sheet 6
  • hs9-6-e700-s004.xlsx, sheet 10
  • hs9-6-e700-s004.xlsx, sheet 7
  • hs9-6-e700-s004.xlsx, sheet 2
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs121909231
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs121909231
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: rs121909231
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page