TP53 c.1017G>C ;(p.E339D)

Variant ID: 17-7574010-C-G

NM_000546.5(TP53):c.1017G>C;(p.E339D)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genetic disarray follows mutant KLF1-E325K expression in a congenital dyserythropoietic anemia patient.

Haematologica
Varricchio, Lilian L; Planutis, Antanas A; Manwani, Deepa D; Jaffray, Julie J; Mitchell, W Beau WB; Migliaccio, Anna Rita AR; Bieker, James J JJ
Publication Date: 2019-12

Variant appearance in text: TP53: E339D
PubMed Link: 30872368
Variant Present in the following documents:
  • Main text
  • 1042372.pdf
View BVdb publication page



Detecting and interpreting DNA methylation marks.

Current Opinion In Structural Biology
Ren, Ren R; Horton, John R JR; Zhang, Xing X; Blumenthal, Robert M RM; Cheng, Xiaodong X
Publication Date: 2018-12

Variant appearance in text: p53: E339D
PubMed Link: 30031306
Variant Present in the following documents:
  • Main text
View BVdb publication page



Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Genome Biology
Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B
Publication Date: 2014-10-28

Variant appearance in text: TP53: E339D
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page