TP53 c.143A>G ;(p.D48G)

Variant ID: 17-7579544-T-C

NM_000546.5(TP53):c.143A>G;(p.D48G)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology
Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR
Publication Date: 2019-04

Variant appearance in text: TP53: D48G
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page



Germ-line and somatic EPHA2 coding variants in lens aging and cataract.

Plos One
Bennett, Thomas M TM; M'Hamdi, Oussama O; Hejtmancik, J Fielding JF; Shiels, Alan A
Publication Date: 2017

Variant appearance in text: TP53: D48G
PubMed Link: 29267365
Variant Present in the following documents:
  • pone.0189881.s007.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: TP53: D48G
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s5.xls, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: TP53: D48G
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
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: D48G
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



TP53 genetic alterations in Arab breast cancer patients: Novel mutations, pattern and distribution.

Oncology Letters
Al-Qasem, Abeer J AJ; Toulimat, Mohamed M; Eldali, Abdelmoneim M AM; Tulbah, Asma A; Al-Yousef, Nujoud N; Al-Daihan, Sooad K SK; Al-Tassan, Nada N; Al-Tweigeri, Taher T; Aboussekhra, Abdelilah A
Publication Date: 2011-03

Variant appearance in text: TP53: 143A>G
PubMed Link: 22866089
Variant Present in the following documents:
  • Main text
View BVdb publication page



Establishment and characterisation of six human biliary tract cancer cell lines.

British Journal Of Cancer
Ku, J-L JL; Yoon, K-A KA; Kim, I-J IJ; Kim, W-H WH; Jang, J-Y JY; Suh, K-S KS; Kim, S-W SW; Park, Y-H YH; Hwang, J-H JH; Yoon, Y-B YB; Park, J-G JG
Publication Date: 2002-07-15

Variant appearance in text: p53: Asp48Gly
PubMed Link: 12107841
Variant Present in the following documents:
  • 87-6600440a.pdf
View BVdb publication page