TP53 c.322G>C ;(p.G108R)

Variant ID: 17-7579365-C-G

NM_000546.5(TP53):c.322G>C;(p.G108R)

This variant was identified in 11 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: rs587782461
PubMed Link: 36561320
Variant Present in the following documents:
  • Table2.xlsx, sheet 7
View BVdb publication page



Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: TP53: 322G>C
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
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: 322G>C; Gly108Arg
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
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: rs587782461
PubMed Link: 33257846
Variant Present in the following documents:
  • 41418_2020_672_MOESM3_ESM.xlsx, sheet 2
  • 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: rs587782461
PubMed Link: 33257846
Variant Present in the following documents:
  • 41418_2020_672_MOESM3_ESM.xlsx, sheet 4
  • 41418_2020_672_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network.

Journal Of Medical Genetics
Garrett, Alice A; Callaway, Alison A; Durkie, Miranda M; Cubuk, Cankut C; Alikian, Mary M; Burghel, George J GJ; Robinson, Rachel R; Izatt, Louise L; Talukdar, Sabrina S; Side, Lucy L; Cranston, Treena T; Palmer-Smith, Sheila S; Baralle, Diana D; Berry, Ian R IR; Drummond, James J; Wallace, Andrew J AJ; Norbury, Gail G; Eccles, Diana M DM; Ellard, Sian S; Lalloo, Fiona F; Evans, D Gareth DG; Woodward, Emma E; Tischkowitz, Marc M; Hanson, Helen H; Turnbull, Clare C; ,
Publication Date: 2020-12

Variant appearance in text: TP53: 322G>C; Gly108Arg
PubMed Link: 32170000
Variant Present in the following documents:
  • jmedgenet-2019-106759supp002.pdf
View BVdb publication page



Nucleotide variations of TP53 exon 4 found in intracranial meningioma and in silico prediction of their significance.

Molecular And Clinical Oncology
Bukovac, Anja A; Kafka, Anja A; Hrašćan, Reno R; Vladušić, Tomislav T; Pećina-Šlaus, Nives N
Publication Date: 2019-12

Variant appearance in text: TP53: 322G>C
PubMed Link: 31692929
Variant Present in the following documents:
  • Main text
  • mco-11-06-0563.pdf
View BVdb publication page



From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.

Cold Spring Harbor Molecular Case Studies
Quinn, Emily A EA; Maciaszek, Jamie L JL; Pinto, Emilia M EM; Phillips, Aaron H AH; Berdy, David D; Khandwala, Mohammad M; Upadhyaya, Santhosh A SA; Zambetti, Gerard P GP; Kriwacki, Richard W RW; Ellison, David W DW; Nichols, Kim E KE; Kesserwan, Chimene C
Publication Date: 2019-08

Variant appearance in text: TP53: 322G>C; Gly108Arg
PubMed Link: 30886117
Variant Present in the following documents:
  • supp_mcs.a003921_Supplemental_Table_1a.xlsx, sheet 1
View BVdb publication page



Somatic mutation driven codon transition bias in human cancer.

Scientific Reports
Son, Hyeonju H; Kang, Hyundeok H; Kim, Hyun Seok HS; Kim, Sangwoo S
Publication Date: 2017-10-27

Variant appearance in text: TP53: G108R
PubMed Link: 29079855
Variant Present in the following documents:
  • Main text
  • 41598_2017_14543_MOESM1_ESM.pdf
  • 41598_2017_Article_14543.pdf
View BVdb publication page



VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.

Nucleic Acids Research
Lai, Zhongwu Z; Markovets, Aleksandra A; Ahdesmaki, Miika M; Chapman, Brad B; Hofmann, Oliver O; McEwen, Robert R; Johnson, Justin J; Dougherty, Brian B; Barrett, J Carl JC; Dry, Jonathan R JR
Publication Date: 2016-06-20

Variant appearance in text: TP53: 322G>C; G108R
PubMed Link: 27060149
Variant Present in the following documents:
  • supp_gkw227_nar-03544-met-k-2015-File003.xls, sheet 2
View BVdb publication page



Frequent inactivating mutations of STAG2 in bladder cancer are associated with low tumour grade and stage and inversely related to chromosomal copy number changes.

Human Molecular Genetics
Taylor, Claire F CF; Platt, Fiona M FM; Hurst, Carolyn D CD; Thygesen, Helene H HH; Knowles, Margaret A MA
Publication Date: 2014-04-15

Variant appearance in text: TP53: G108R
PubMed Link: 24270882
Variant Present in the following documents:
  • supp_ddt589_ddt589supp_table1.pdf
View BVdb publication page



PEBP2-beta/CBF-beta-dependent phosphorylation of RUNX1 and p300 by HIPK2: implications for leukemogenesis.

Blood
Wee, Hee-Jun HJ; Voon, Dominic Chih-Cheng DC; Bae, Suk-Chul SC; Ito, Yoshiaki Y
Publication Date: 2008-11-01

Variant appearance in text: p53: G108R
PubMed Link: 18695000
Variant Present in the following documents:
  • Main text
View BVdb publication page