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