TP53 c.580C>A ;(p.L194I)

Variant ID: 17-7578269-G-T

NM_000546.5(TP53):c.580C>A;(p.L194I)

This variant was identified in 10 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: 580C>A
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Characterization of disease-propagating stem cells responsible for myeloproliferative neoplasm-blast phase.

Jci Insight
Wang, Xiaoli X; Rampal, Raajit K RK; Hu, Cing Siang CS; Tripodi, Joseph J; Farnoud, Noushin N; Petersen, Bruce B; Rossi, Michael R MR; Patel, Minal M; McGovern, Erin E; Najfeld, Vesna V; Iancu-Rubin, Camelia C; Lu, Min M; Davis, Andrew A; Kremyanskaya, Marina M; Weinberg, Rona Singer RS; Mascarenhas, John J; Hoffman, Ronald R
Publication Date: 2022-04-22

Variant appearance in text: TP53: L194I
PubMed Link: 35259128
Variant Present in the following documents:
  • jciinsight-7-156534-s067.xlsx, sheet 1
View BVdb publication page



Ppp6c haploinsufficiency accelerates UV-induced BRAF(V600E)-initiated melanomagenesis.

Cancer Science
Kanazawa, Kosuke K; Kishimoto, Kazuhiro K; Nomura, Miyuki M; Kurosawa, Koreyuki K; Kato, Hiroyuki H; Inoue, Yui Y; Miura, Koh K; Fukui, Katsuya K; Yamashita, Yoji Y; Sato, Ikuro I; Tsuji, Hiroyuki H; Watanabe, Toshio T; Tanaka, Takuji T; Yasuda, Jun J; Tanuma, Nobuhiro N; Shima, Hiroshi H
Publication Date: 2021-06

Variant appearance in text: TP53: L194I
PubMed Link: 33743547
Variant Present in the following documents:
  • Main text
  • CAS-112-2233.pdf
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: L194I
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.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: L194I
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Nature Communications
Witkiewicz, Agnieszka K AK; McMillan, Elizabeth A EA; Balaji, Uthra U; Baek, GuemHee G; Lin, Wan-Chi WC; Mansour, John J; Mollaee, Mehri M; Wagner, Kay-Uwe KU; Koduru, Prasad P; Yopp, Adam A; Choti, Michael A MA; Yeo, Charles J CJ; McCue, Peter P; White, Michael A MA; Knudsen, Erik S ES
Publication Date: 2015-04-09

Variant appearance in text: p53: L194I
PubMed Link: 25855536
Variant Present in the following documents:
  • ncomms7744-s2.xlsx, 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: L194I
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



An integrative genomic approach identifies p73 and p63 as activators of miR-200 microRNA family transcription.

Nucleic Acids Research
Knouf, Emily C EC; Garg, Kavita K; Arroyo, Jason D JD; Correa, Yesenia Y; Sarkar, Deepayan D; Parkin, Rachael K RK; Wurz, Kaitlyn K; O'Briant, Kathy C KC; Godwin, Andrew K AK; Urban, Nicole D ND; Ruzzo, Walter L WL; Gentleman, Robert R; Drescher, Charles W CW; Swisher, Elizabeth M EM; Tewari, Muneesh M
Publication Date: 2012-01

Variant appearance in text: TP53: L194I
PubMed Link: 21917857
Variant Present in the following documents:
  • supp_gkr731_nar-01065-n-2011-File008.xls, sheet 10
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: L194I
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



p53 mutations and expression in breast carcinoma in situ.

The American Journal Of Pathology
Lukas, J J; Niu, N N; Press, M F MF
Publication Date: 2000-01

Variant appearance in text: p53: Leu194Ile
PubMed Link: 10623666
Variant Present in the following documents:
  • Main text
View BVdb publication page