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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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