PC c.844C>T ;(p.H282Y)

Variant ID: 11-66637832-G-A

NM_001040716.1(PC):c.844C>T;(p.H282Y)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Deciphering the Increased Prevalence of TP53 Mutations in Metastatic Prostate Cancer.

Cancer Informatics
Zhang, Wensheng W; Dong, Yan Y; Sartor, Oliver O; Zhang, Kun K
Publication Date: 2022

Variant appearance in text: PC: 844C>T
PubMed Link: 35392296
Variant Present in the following documents:
  • Main text
  • 10.1177_11769351221087046.pdf
View BVdb publication page



Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening.

Orphanet Journal Of Rare Diseases
Lin, Yiming Y; Lin, Bangbang B; Chen, Yanru Y; Zheng, Zhenzhu Z; Fu, Qingliu Q; Lin, Weihua W; Zhang, Weifeng W
Publication Date: 2021-12-04

Variant appearance in text: PC: 844C>T
PubMed Link: 34863234
Variant Present in the following documents:
  • 13023_2021_Article_2126.pdf
View BVdb publication page



Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening.

Orphanet Journal Of Rare Diseases
Lin, Yiming Y; Lin, Bangbang B; Chen, Yanru Y; Zheng, Zhenzhu Z; Fu, Qingliu Q; Lin, Weihua W; Zhang, Weifeng W
Publication Date: 2021-12-04

Variant appearance in text: PC: 844C>T
PubMed Link: 34863234
Variant Present in the following documents:
  • 13023_2021_Article_2126.pdf
View BVdb publication page



Clinical and molecular characterization of patients fulfilling Chompret criteria for Li-Fraumeni syndrome in Southern Brazil.

Plos One
Matzenbacher Bittar, Camila C; de Araújo Rocha, Yasminne Marinho YM; Vieira, Igor Araujo IA; Rosset, Clévia C; Andreis, Tiago Finger TF; Sartor, Ivaine Tais Sauthier ITS; Artigalás, Osvaldo O; Netto, Cristina B O CBO; Alemar, Barbara B; Macedo, Gabriel S GS; Ashton-Prolla, Patricia P
Publication Date: 2021

Variant appearance in text: PC: 844C>T
PubMed Link: 34529667
Variant Present in the following documents:
  • Main text
  • pone.0251639.pdf
View BVdb publication page



Dual-molecular barcode sequencing detects rare variants in tumor and cell free DNA in plasma.

Scientific Reports
Hirotsu, Yosuke Y; Otake, Sotaro S; Ohyama, Hiroshi H; Amemiya, Kenji K; Higuchi, Rumi R; Oyama, Toshio T; Mochizuki, Hitoshi H; Goto, Taichiro T; Omata, Masao M
Publication Date: 2020-02-25

Variant appearance in text: PC: 844C>T
PubMed Link: 32099048
Variant Present in the following documents:
  • 41598_2020_Article_60361.pdf
View BVdb publication page



Histidine 282 in 5-aminolevulinate synthase affects substrate binding and catalysis.

Biochemistry
Turbeville, Tracy D TD; Zhang, Junshun J; Hunter, Gregory A GA; Ferreira, Gloria C GC
Publication Date: 2007-05-22

Variant appearance in text: PC: H282Y
PubMed Link: 17469798
Variant Present in the following documents:
  • Main text
View BVdb publication page