PRRT2 c.623C>A ;(p.S208Y)

Variant ID: 16-29824998-C-A

NM_145239.2(PRRT2):c.623C>A;(p.S208Y)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: rs201409113
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: rs201409113
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: PRRT2: 623C>A; Ser208Tyr; rs201409113
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: PRRT2: S208Y
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page



PRRT2 mutations are related to febrile seizures in epileptic patients.

International Journal Of Molecular Sciences
He, Zheng-Wen ZW; Qu, Jian J; Zhang, Ying Y; Mao, Chen-Xue CX; Wang, Zhi-Bin ZB; Mao, Xiao-Yuan XY; Deng, Zhi-Yong ZY; Zhou, Bo-Ting BT; Yin, Ji-Ye JY; Long, Hong-Yu HY; Xiao, Bo B; Zhang, Yu Y; Zhou, Hong-Hao HH; Liu, Zhao-Qian ZQ
Publication Date: 2014-12-16

Variant appearance in text: PRRT2: 623C>A; rs201409113
PubMed Link: 25522171
Variant Present in the following documents:
  • Main text
  • ijms-15-23408.pdf
View BVdb publication page