TP53 c.46C>A ;(p.Q16K)

Variant ID: 17-7579867-G-T

NM_000546.5(TP53):c.46C>A;(p.Q16K)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Different impacts of TP53 mutations on cell cycle-related gene expression among cancer types.

Scientific Reports
Sasaki, Keiju K; Takahashi, Shin S; Ouchi, Kota K; Otsuki, Yasufumi Y; Wakayama, Shonosuke S; Ishioka, Chikashi C
Publication Date: 2023-03-24

Variant appearance in text: p53: Q16K
PubMed Link: 36964217
Variant Present in the following documents:
  • 41598_2023_32092_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.

Cancer Research Communications
Ghezelayagh, Talayeh S TS; Kohrn, Brendan F BF; Fredrickson, Jeanne J; Manhardt, Enna E; Radke, Marc R MR; Katz, Ronit R; Gray, Heidi J HJ; Urban, Renata R RR; Pennington, Kathryn P KP; Liao, John B JB; Doll, Kemi M KM; Simons, Elise J EJ; Burzawa, Jennifer K JK; Goff, Barbara A BA; Speiser, Paul P; Swisher, Elizabeth M EM; Norquist, Barbara M BM; Risques, Rosa Ana RA
Publication Date: 2022-10

Variant appearance in text: TP53: 46C>A; Q16K
PubMed Link: 36311816
Variant Present in the following documents:
  • crc-22-0314-s02.xlsx, sheet 6
View BVdb publication page



Monocarboxylate Transporter 4 in Cancer-Associated Fibroblasts Is a Driver of Aggressiveness in Aerodigestive Tract Cancers.

Frontiers In Oncology
Domingo-Vidal, Marina M; Whitaker-Menezes, Diana D; Mollaee, Mehri M; Lin, Zhao Z; Tuluc, Madalina M; Philp, Nancy N; Johnson, Jennifer M JM; Zhan, Tingting T; Curry, Joseph J; Martinez-Outschoorn, Ubaldo U
Publication Date: 2022

Variant appearance in text: TP53: Q16K
PubMed Link: 35814364
Variant Present in the following documents:
  • Main text
  • fonc-12-906494.pdf
View BVdb publication page



Acquired somatic variants in inherited myeloid malignancies.

Leukemia
Armes, Hannah H; Rio-Machin, Ana A; Krizsán, Szilvia S; Bödör, Csaba C; Kaya, Fadimana F; Bewicke-Copley, Findlay F; Alnajar, Jenna J; Walne, Amanda A; Péterffy, Borbála B; Tummala, Hemanth H; Rouault-Pierre, Kevin K; Dokal, Inderjeet I; Vulliamy, Tom T; Fitzgibbon, Jude J
Publication Date: 2022-05

Variant appearance in text: TP53: Q16K
PubMed Link: 35140362
Variant Present in the following documents:
  • 41375_2022_1515_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



GATA2 deficiency syndrome: A decade of discovery.

Human Mutation
Homan, Claire C CC; Venugopal, Parvathy P; Arts, Peer P; Shahrin, Nur H NH; Feurstein, Simone S; Rawlings, Lesley L; Lawrence, David M DM; Andrews, James J; King-Smith, Sarah L SL; Harvey, Natasha L NL; Brown, Anna L AL; Scott, Hamish S HS; Hahn, Christopher N CN
Publication Date: 2021-11

Variant appearance in text: TP53: Q16K
PubMed Link: 34387894
Variant Present in the following documents:
  • HUMU-42-1399-s001.xlsx, sheet 1
View BVdb publication page



Germline variants in hereditary breast cancer genes are associated with early age at diagnosis and family history in Guatemalan breast cancer.

Breast Cancer Research And Treatment
Ren, Megan M; Orozco, Anali A; Shao, Kang K; Albanez, Anaseidy A; Ortiz, Jeremy J; Cao, Boyang B; Wang, Lusheng L; Barreda, Lilian L; Alvarez, Christian S CS; Garland, Lisa L; Wu, Dongjing D; Chung, Charles C CC; Wang, Jiahui J; Frone, Megan M; Ralon, Sergio S; Argueta, Victor V; Orozco, Roberto R; Gharzouzi, Eduardo E; Dean, Michael M
Publication Date: 2021-09

Variant appearance in text: TP53: 46C>A; Q16K
PubMed Link: 34196900
Variant Present in the following documents:
  • 10549_2021_6305_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Comprehensive genomic profiling of Brazilian non-small cell lung cancer patients (GBOT 0118/LACOG0418).

Thoracic Cancer
Mascarenhas, Eldsamira E; Gelatti, Ana Caroline AC; Araújo, Luiz Henrique LH; Baldotto, Clarissa C; Mathias, Clarissa C; Zukin, Mauro M; Werutsky, Gustavo G; Pacheco, Patricia P; Gomes, Rafaela R; de Castro, Gilberto G; Cordeiro de Lima, Vladmir Cláudio VC
Publication Date: 2021-03

Variant appearance in text: TP53: Q16K
PubMed Link: 33314759
Variant Present in the following documents:
  • TCA-12-580.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: Q16K
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s5.xls, sheet 1
View BVdb publication page



GATA2 and secondary mutations in familial myelodysplastic syndromes and pediatric myeloid malignancies.

Haematologica
Wang, Xinan X; Muramatsu, Hideki H; Okuno, Yusuke Y; Sakaguchi, Hirotoshi H; Yoshida, Kenichi K; Kawashima, Nozomu N; Xu, Yinyan Y; Shiraishi, Yuichi Y; Chiba, Kenichi K; Tanaka, Hiroko H; Saito, Shoji S; Nakazawa, Yozo Y; Masunari, Taro T; Hirose, Tadashi T; Elmahdi, Shaimaa S; Narita, Atsushi A; Doisaki, Sayoko S; Ismael, Olfat O; Makishima, Hideki H; Hama, Asahito A; Miyano, Satoru S; Takahashi, Yoshiyuki Y; Ogawa, Seishi S; Kojima, Seiji S
Publication Date: 2015-10

Variant appearance in text: TP53: Q16K
PubMed Link: 26022708
Variant Present in the following documents:
  • Main text
View BVdb publication page



Loss of nuclear receptor RXRα in epidermal keratinocytes promotes the formation of Cdk4-activated invasive melanomas.

Pigment Cell & Melanoma Research
Hyter, Stephen S; Bajaj, Gaurav G; Liang, Xiaobo X; Barbacid, Mariano M; Ganguli-Indra, Gitali G; Indra, Arup Kumar AK
Publication Date: 2010-10

Variant appearance in text: p53: Q16K
PubMed Link: 20629968
Variant Present in the following documents:
  • Main text
View BVdb publication page