TP53 c.950del ;(p.Q317Rfs*28)

Variant ID: 17-7576896-CT-C

NM_000546.5(TP53):c.950del;(p.Q317Rfs*28)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: TP53: 950del; Gln317fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Integrated cohort of esophageal squamous cell cancer reveals genomic features underlying clinical characteristics.

Nature Communications
Li, Minghao M; Zhang, Zicheng Z; Wang, Qianrong Q; Yi, Yan Y; Li, Baosheng B
Publication Date: 2022-09-07

Variant appearance in text: TP53: 950delA; Q317Rfs*28
PubMed Link: 36071046
Variant Present in the following documents:
  • 41467_2022_32962_MOESM15_ESM.xlsx, sheet 22
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: 950delA; Gln317Argfs
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
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: 950delA; Gln317Argfs
PubMed Link: 30886117
Variant Present in the following documents:
  • supp_mcs.a003921_Supplemental_Table_1a.xlsx, sheet 1
View BVdb publication page



Genetic Gastric Cancer Susceptibility in the International Clinical Cancer Genomics Community Research Network.

Cancer Genetics
Slavin, Thomas T; Neuhausen, Susan L SL; Rybak, Christina C; Solomon, Ilana I; Nehoray, Bita B; Blazer, Kathleen K; Niell-Swiller, Mariana M; Adamson, Aaron W AW; Yuan, Yate-Ching YC; Yang, Kai K; Sand, Sharon S; Castillo, Danielle D; Herzog, Josef J; Wu, Xiwei X; Tao, Shu S; Chavez, Tanya T; Woo, Yanghee Y; Chao, Joseph J; Mora, Pamela P; Horcasitas, Darling D; Weitzel, Jeffrey J
Publication Date: 2017-10

Variant appearance in text: N/A
PubMed Link: 29025585
Variant Present in the following documents:
View BVdb publication page



Establishing the origin of metastatic deposits in the setting of multiple primary malignancies: the role of massively parallel sequencing.

Molecular Oncology
De Mattos-Arruda, Leticia L; Bidard, Francois-Clement FC; Won, Helen H HH; Cortes, Javier J; Ng, Charlotte K Y CK; Peg, Vicente V; Nuciforo, Paolo P; Jungbluth, Achim A AA; Weigelt, Britta B; Berger, Michael F MF; Seoane, Joan J; Reis-Filho, Jorge S JS
Publication Date: 2014-02

Variant appearance in text: N/A
PubMed Link: 24220311
Variant Present in the following documents:
View BVdb publication page



Only missense mutations affecting the DNA binding domain of p53 influence outcomes in patients with breast carcinoma.

Plos One
Végran, Frédérique F; Rebucci, Magali M; Chevrier, Sandy S; Cadouot, Muriel M; Boidot, Romain R; Lizard-Nacol, Sarab S
Publication Date: 2013

Variant appearance in text: TP53: 950delA
PubMed Link: 23359294
Variant Present in the following documents:
  • Main text
  • pone.0055103.pdf
View BVdb publication page