TP53 c.209C>T ;(p.A70V)

Variant ID: 17-7579478-G-A

NM_000546.5(TP53):c.209C>T;(p.A70V)

This variant was identified in 13 publications

View GRCh38 version.




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: 209C>T
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



IGH Translocations in Chinese Patients With Chronic Lymphocytic Leukemia: Clinicopathologic Characteristics and Genetic Profile.

Frontiers In Oncology
Li, Qinlu Q; Xing, Shugang S; Zhang, Heng H; Mao, Xiao X; Xiao, Min M; Wang, Ying Y
Publication Date: 2022

Variant appearance in text: TP53: 209C>T; Ala70Val
PubMed Link: 35720006
Variant Present in the following documents:
  • Table_2.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: 209C>T; Ala70Val
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: TP53: 209C>T; A70V
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: TP53: A70V
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Bmc Cancer
Koyama, Takahiko T; Rhrissorrakrai, Kahn K; Parida, Laxmi L
Publication Date: 2019-02-01

Variant appearance in text: TP53: 209C>T; A70V
PubMed Link: 30709382
Variant Present in the following documents:
  • 12885_2019_5313_MOESM2_ESM.xlsx, sheet 1
  • 12885_2019_5313_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



EBV-Negative Monomorphic B-Cell Posttransplant Lymphoproliferative Disorder with Marked Morphologic Pleomorphism and Pathogenic Mutations in ASXL1, BCOR, CDKN2A, NF1, and TP53.

Case Reports In Hematology
Bogusz, Agata M AM
Publication Date: 2017

Variant appearance in text: TP53: A70V
PubMed Link: 28487787
Variant Present in the following documents:
  • CRIHEM2017-5083463.pdf
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: A70V
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s5.xls, sheet 1
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: TP53: 209C>T
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Next generation sequencing of triple negative breast cancer to find predictors for chemotherapy response.

Breast Cancer Research : Bcr
Lips, Esther H EH; Michaut, Magali M; Hoogstraat, Marlous M; Mulder, Lennart L; Besselink, Nicolle J M NJ; Koudijs, Marco J MJ; Cuppen, Edwin E; Voest, Emile E EE; Bernards, Rene R; Nederlof, Petra M PM; Wesseling, Jelle J; Rodenhuis, Sjoerd S; Wessels, Lodewyk F A LF; ,
Publication Date: 2015-10-03

Variant appearance in text: TP53: A70V
PubMed Link: 26433948
Variant Present in the following documents:
  • 13058_2015_642_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Whole-genome resequencing analyses of five pig breeds, including Korean wild and native, and three European origin breeds.

Dna Research : An International Journal For Rapid Publication Of Reports On Genes And Genomes
Choi, Jung-Woo JW; Chung, Won-Hyong WH; Lee, Kyung-Tai KT; Cho, Eun-Seok ES; Lee, Si-Woo SW; Choi, Bong-Hwan BH; Lee, Sang-Heon SH; Lim, Wonjun W; Lim, Dajeong D; Lee, Yun-Gyeong YG; Hong, Joon-Ki JK; Kim, Doo-Wan DW; Jeon, Hyeon-Jeong HJ; Kim, Jiwoong J; Kim, Namshin N; Kim, Tae-Hun TH
Publication Date: 2015-08

Variant appearance in text: p53: A70V
PubMed Link: 26117497
Variant Present in the following documents:
  • supp_dsv011_dsv011supp_table2.xlsx, sheet 2
View BVdb publication page



PRC2 is recurrently inactivated through EED or SUZ12 loss in malignant peripheral nerve sheath tumors.

Nature Genetics
Lee, William W; Teckie, Sewit S; Wiesner, Thomas T; Ran, Leili L; Prieto Granada, Carlos N CN; Lin, Mingyan M; Zhu, Sinan S; Cao, Zhen Z; Liang, Yupu Y; Sboner, Andrea A; Tap, William D WD; Fletcher, Jonathan A JA; Huberman, Kety H KH; Qin, Li-Xuan LX; Viale, Agnes A; Singer, Samuel S; Zheng, Deyou D; Berger, Michael F MF; Chen, Yu Y; Antonescu, Cristina R CR; Chi, Ping P
Publication Date: 2014-11

Variant appearance in text: TP53: A70V
PubMed Link: 25240281
Variant Present in the following documents:
  • NIHMS623924-supplement-1.pdf
View BVdb publication page



Rarity of Somatic Mutation and Frequency of Normal Sequence Variation Detected in Sporadic Colon Adenocarcinoma Using High-Throughput cDNA Sequencing.

Bioinformatics And Biology Insights
Kan, Takatsugu T; Paun, Bogdan C BC; Mori, Yuriko Y; Sato, Fumiaki F; Jin, Zhe Z; Hamilton, James P JP; Ito, Tetsuo T; Cheng, Yulan Y; David, Stefan S; Olaru, Alexandru V AV; Yang, Jian J; Agarwal, Rachana R; Abraham, John M JM; Meltzer, Stephen J SJ
Publication Date: 2007

Variant appearance in text: TP53: Ala70Val
PubMed Link: 18389087
Variant Present in the following documents:
  • Main text
View BVdb publication page