TP53 c.668C>A ;(p.P223H)

Variant ID: 17-7578181-G-T

NM_000546.5(TP53):c.668C>A;(p.P223H)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics
G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A
Publication Date: 2022

Variant appearance in text: TP53: P223H
PubMed Link: 36561320
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
  • Table2.xlsx, sheet 7
View BVdb publication page



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: 668C>A
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Publication Date: 2022-06-15

Variant appearance in text: TP53: P223H
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, 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: rs138983188
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Cell Death And Differentiation
Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T
Publication Date: 2021-05

Variant appearance in text: rs138983188
PubMed Link: 33257846
Variant Present in the following documents:
  • 41418_2020_672_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Cell Death And Differentiation
Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T
Publication Date: 2021-05

Variant appearance in text: rs138983188
PubMed Link: 33257846
Variant Present in the following documents:
  • 41418_2020_672_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: TP53: P223H
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
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: P223H
PubMed Link: 32704382
Variant Present in the following documents:
  • 41421_2020_177_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Clinical and genomic insights into circulating tumor DNA-based alterations across the spectrum of metastatic hormone-sensitive and castrate-resistant prostate cancer.

Ebiomedicine
Kohli, Manish M; Tan, Winston W; Zheng, Tiantian T; Wang, Amy A; Montesinos, Carlos C; Wong, Calven C; Du, Pan P; Jia, Shidong S; Yadav, Siddhartha S; Horvath, Lisa G LG; Mahon, Kate L KL; Kwan, Edmond M EM; Fettke, Heidi H; Yu, Jianjun J; Azad, Arun A AA
Publication Date: 2020-04

Variant appearance in text: TP53: Pro223His; rs138983188
PubMed Link: 32268276
Variant Present in the following documents:
  • mmc5.xlsx, sheet 5
View BVdb publication page



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: P223H
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page



Comprehensive genomic and immunological characterization of Chinese non-small cell lung cancer patients.

Nature Communications
Zhang, Xu-Chao XC; Wang, Jun J; Shao, Guo-Guang GG; Wang, Qun Q; Qu, Xiaotao X; Wang, Bo B; Moy, Christopher C; Fan, Yue Y; Albertyn, Zayed Z; Huang, Xiayu X; Zhang, Jingyu J; Qiu, Yang Y; Platero, Suso S; Lorenzi, Matthew V MV; Zudaire, Enrique E; Yang, Jennifer J; Cheng, Ying Y; Xu, Lin L; Wu, Yi-Long YL
Publication Date: 2019-04-16

Variant appearance in text: rs138983188
PubMed Link: 30992440
Variant Present in the following documents:
  • 41467_2019_9762_MOESM13_ESM.xlsx, sheet 1
View BVdb publication page



Sporadic Early-Onset Diffuse Gastric Cancers Have High Frequency of Somatic CDH1 Alterations, but Low Frequency of Somatic RHOA Mutations Compared With Late-Onset Cancers.

Gastroenterology
Cho, Soo Young SY; Park, Jun Won JW; Liu, Yang Y; Park, Young Soo YS; Kim, Ju Hee JH; Yang, Hanna H; Um, Hyejin H; Ko, Woo Ri WR; Lee, Byung Il BI; Kwon, Sun Young SY; Ryu, Seung Wan SW; Kwon, Chae Hwa CH; Park, Do Youn DY; Lee, Jae-Hyuk JH; Lee, Sang Il SI; Song, Kyu Sang KS; Hur, Hoon H; Han, Sang-Uk SU; Chang, Heekyung H; Kim, Su-Jin SJ; Kim, Byung-Sik BS; Yook, Jeong-Hwan JH; Yoo, Moon-Won MW; Kim, Beom-Su BS; Lee, In-Seob IS; Kook, Myeong-Cherl MC; Thiessen, Nina N; He, An A; Stewart, Chip C; Dunford, Andrew A; Kim, Jaegil J; Shih, Juliann J; Saksena, Gordon G; Cherniack, Andrew D AD; Schumacher, Steven S; Weiner, Amaro-Taylor AT; Rosenberg, Mara M; Getz, Gad G; Yang, Eun Gyeong EG; Ryu, Min-Hee MH; Bass, Adam J AJ; Kim, Hark Kyun HK
Publication Date: 2017-08

Variant appearance in text: rs138983188
PubMed Link: 28522256
Variant Present in the following documents:
  • NIHMS1058936-supplement-Table_S3.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: P223H
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: P223H
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: P223H
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Computational screening and molecular dynamic simulation of breast cancer associated deleterious non-synonymous single nucleotide polymorphisms in TP53 gene.

Plos One
Chitrala, Kumaraswamy Naidu KN; Yeguvapalli, Suneetha S
Publication Date: 2014

Variant appearance in text: TP53: P223H; rs138983188
PubMed Link: 25105660
Variant Present in the following documents:
  • Main text
  • pone.0104242.pdf
View BVdb publication page



Multi-tiered genomic analysis of head and neck cancer ties TP53 mutation to 3p loss.

Nature Genetics
Gross, Andrew M AM; Orosco, Ryan K RK; Shen, John P JP; Egloff, Ann Marie AM; Carter, Hannah H; Hofree, Matan M; Choueiri, Michel M; Coffey, Charles S CS; Lippman, Scott M SM; Hayes, D Neil DN; Cohen, Ezra E EE; Grandis, Jennifer R JR; Nguyen, Quyen T QT; Ideker, Trey T
Publication Date: 2014-09

Variant appearance in text: rs138983188
PubMed Link: 25086664
Variant Present in the following documents:
  • NIHMS612904-supplement-2.xlsx, sheet 8
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: P223H
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page