TP53 c.922C>G ;(p.L308V)

Variant ID: 17-7576924-G-C

NM_000546.5(TP53):c.922C>G;(p.L308V)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08

Variant appearance in text: TP53: 922C>G; Leu308Val
PubMed Link: 36755093
Variant Present in the following documents:
  • 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1
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: 922C>G
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.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: 922C>G; L308V
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
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: L308V
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: L308V
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: L308V
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Targeting oxidative stress in embryonal rhabdomyosarcoma.

Cancer Cell
Chen, Xiang X; Stewart, Elizabeth E; Shelat, Anang A AA; Qu, Chunxu C; Bahrami, Armita A; Hatley, Mark M; Wu, Gang G; Bradley, Cori C; McEvoy, Justina J; Pappo, Alberto A; Spunt, Sheri S; Valentine, Marcus B MB; Valentine, Virginia V; Krafcik, Fred F; Lang, Walter H WH; Wierdl, Monika M; Tsurkan, Lyudmila L; Tolleman, Viktor V; Federico, Sara M SM; Morton, Chris C; Lu, Charles C; Ding, Li L; Easton, John J; Rusch, Michael M; Nagahawatte, Panduka P; Wang, Jianmin J; Parker, Matthew M; Wei, Lei L; Hedlund, Erin E; Finkelstein, David D; Edmonson, Michael M; Shurtleff, Sheila S; Boggs, Kristy K; Mulder, Heather H; Yergeau, Donald D; Skapek, Steve S; Hawkins, Douglas S DS; Ramirez, Nilsa N; Potter, Philip M PM; Sandoval, John A JA; Davidoff, Andrew M AM; Mardis, Elaine R ER; Wilson, Richard K RK; Zhang, Jinghui J; Downing, James R JR; Dyer, Michael A MA; ,
Publication Date: 2013-12-09

Variant appearance in text: TP53: L308V
PubMed Link: 24332040
Variant Present in the following documents:
  • Main text
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: L308V
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



Functional analysis of human T lymphotropic virus type 2 Tax proteins.

Retrovirology
Sheehy, Noreen N; Lillis, Lorraine L; Watters, Karen K; Lewis, Martha M; Gautier, Virginie V; Hall, William W
Publication Date: 2006-03-21

Variant appearance in text: p53: L308V
PubMed Link: 16551350
Variant Present in the following documents:
  • 1742-4690-3-20.pdf
View BVdb publication page