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TP53 c.663G>C ;(p.E221D)
Variant ID: 17-7578186-C-G
NM_000546.5(
TP53
):c.663G>C;(p.E221D)
This variant was identified in 7 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.
Iscience
Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X
Publication Date: 2022-09-16
Variant appearance in text: p53: 663G>C
PubMed Link:
36117989
Variant Present in the following documents:
mmc4.xlsx, sheet 1
View BVdb publication page
A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.
Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12
Variant appearance in text: TP53: 663G>C; E221D
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page
Defining relative mutational difficulty to understand cancer formation.
Cell Discovery
Shan, Lin L; Yu, Jiao J; He, Zhengjin Z; Chen, Shishuang S; Liu, Mingxian M; Ding, Hongyu H; Xu, Liang L; Zhao, Jie J; Yang, Ailing A; Jiang, Hai H
Publication Date: 2020
Variant appearance in text: p53: E221D
PubMed Link:
32704382
Variant Present in the following documents:
41421_2020_177_MOESM4_ESM.xlsx, 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: E221D
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: E221D
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: E221D
PubMed Link:
22866089
Variant Present in the following documents:
Main text
View BVdb publication page
Predicting the functional impact of protein mutations: application to cancer genomics.
Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01
Variant appearance in text: TP53: E221D
PubMed Link:
21727090
Variant Present in the following documents:
supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page