PRNP c.204T>C ;(p.P68=)

Variant ID: 20-4680070-T-C

NM_000311.3(PRNP):c.204T>C;(p.P68=)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Prion Mutations in Republic of Republic of Korea, China, and Japan.

International Journal Of Molecular Sciences
Kim, Dan Yeong DY; Shim, Kyu Hwan KH; Bagyinszky, Eva E; An, Seong Soo A SSA
Publication Date: 2022-12-30

Variant appearance in text: CJD: P68P
PubMed Link: 36614069
Variant Present in the following documents:
  • Main text
  • ijms-24-00625.pdf
View BVdb publication page



Integrative single-cell analysis reveals transcriptional and epigenetic regulatory features of clear cell renal cell carcinoma.

Cancer Research
Yu, Zhenyuan Z; Lv, Yufang Y; Su, Cheng C; Lu, Wenhao W; Zhang, RuiRui R; Li, Jiaping J; Guo, Bingqian B; Yan, Haibiao H; Liu, Deyun D; Yang, Zhanbin Z; Mi, Hua H; Mo, Linjian L; Guo, Yi Y; Feng, Wenyu W; Xu, Haotian H; Peng, Wenyi W; Cheng, Jiwen J; Nan, Aruo A; Mo, Zengnan Z
Publication Date: 2023-01-06

Variant appearance in text: rs532493114
PubMed Link: 36607615
Variant Present in the following documents:
  • can-22-2224_table_s8_suppst8.xlsx, sheet 7
View BVdb publication page



Absence of single nucleotide polymorphisms (SNPs) in the open reading frame (ORF) of the prion protein gene (PRNP) in a large sampling of various chicken breeds.

Bmc Genomics
Kim, Yong-Chan YC; Won, Sae-Young SY; Jeong, Byung-Hoon BH
Publication Date: 2019-12-03

Variant appearance in text: PRNP: P68P
PubMed Link: 31795947
Variant Present in the following documents:
  • Main text
  • 12864_2019_Article_6315.pdf
View BVdb publication page



A pan-cancer analysis of synonymous mutations.

Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12

Variant appearance in text: PRNP: 204T>C
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Genotype patterns and characteristics of PRNP in the Korean population.

Prion
Moe Lee, Sol S; Ran Ju, Young Y; Choi, Bo-Yeong BY; Wook Hyeon, Jae J; Sun Park, Jun J; Kyeong Kim, Chi C; Yeon Kim, Su S
Publication Date: 2012

Variant appearance in text: PRNP: P68P
PubMed Link: 22561193
Variant Present in the following documents:
  • Main text
View BVdb publication page



PRNP variation in UK sporadic and variant Creutzfeldt Jakob disease highlights genetic risk factors and a novel non-synonymous polymorphism.

Bmc Medical Genetics
Bishop, Matthew T MT; Pennington, Catherine C; Heath, Craig A CA; Will, Robert G RG; Knight, Richard S G RS
Publication Date: 2009-12-26

Variant appearance in text: CJD: P68P
PubMed Link: 20035629
Variant Present in the following documents:
  • Main text
  • 1471-2350-10-146.pdf
View BVdb publication page