TP53 c.146A>T ;(p.D49V)

Variant ID: 17-7579541-T-A

NM_000546.5(TP53):c.146A>T;(p.D49V)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Phase I trial of the TNF-α inhibitor certolizumab plus chemotherapy in stage IV lung adenocarcinomas.

Nature Communications
Paik, Paul K PK; Luo, Jia J; Ai, Ni N; Kim, Rachel R; Ahn, Linda L; Biswas, Anup A; Coker, Courtney C; Ma, Wanchao W; Wong, Phillip P; Buonocore, Darren J DJ; Lai, W Victoria WV; Chaft, Jamie E JE; Acharyya, Swarnali S; Massagué, Joan J; Kris, Mark G MG
Publication Date: 2022-10-15

Variant appearance in text: TP53: 146A>T; D49V
PubMed Link: 36241629
Variant Present in the following documents:
  • 41467_2022_33719_MOESM1_ESM.pdf
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: 146A>T
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Association between TP53 mutation and high 21-gene recurrence score in estrogen receptor-positive/HER2-negative breast cancer.

Npj Breast Cancer
Ji, Jung Hwan JH; Bae, Soong June SJ; Kim, Kyungsoo K; Chu, Chihhao C; Lee, Kyung-A KA; Kim, Yoonjung Y; Kim, Jee Hung JH; Jeong, Joon J; Ahn, Sung Gwe SG
Publication Date: 2022-02-16

Variant appearance in text: TP53: Asp49Val
PubMed Link: 35173185
Variant Present in the following documents:
  • 41523_2022_384_MOESM1_ESM.pdf
View BVdb publication page



Comprehensive genomic analysis of refractory multiple myeloma reveals a complex mutational landscape associated with drug resistance and novel therapeutic vulnerabilities.

Haematologica
Giesen, Nicola N; Paramasivam, Nagarajan N; Toprak, Umut H UH; Huebschmann, Daniel D; Xu, Jing J; Uhrig, Sebastian S; Samur, Mehmet M; Bähr, Stella S; Fröhlich, Martina M; Mughal, Sadaf S SS; Mai, Elias K EK; Jauch, Anna A; Müller-Tidow, Carsten C; Brors, Benedikt B; Munshi, Nikhil N; Goldschmidt, Hartmut H; Weinhold, Niels N; Schlesner, Matthias M; Raab, Marc S MS
Publication Date: 2022-08-01

Variant appearance in text: TP53: D49V
PubMed Link: 35045690
Variant Present in the following documents:
  • 2021_279360_GIESEN_TABS2_SUPPL.xlsx, sheet 1
View BVdb publication page



Distinct genetic changes reveal evolutionary history and heterogeneous molecular grade of DLBCL with MYC/BCL2 double-hit.

Leukemia
Cucco, Francesco F; Barrans, Sharon S; Sha, Chulin C; Clipson, Alexandra A; Crouch, Simon S; Dobson, Rachel R; Chen, Zi Z; Thompson, Joe Sneath JS; Care, Matthew A MA; Cummin, Thomas T; Caddy, Josh J; Liu, Hongxiang H; Robinson, Anne A; Schuh, Anna A; Fitzgibbon, Jude J; Painter, Daniel D; Smith, Alexandra A; Roman, Eve E; Tooze, Reuben R; Burton, Catherine C; Davies, Andrew J AJ; Westhead, David R DR; Johnson, Peter W M PWM; Du, Ming-Qing MQ
Publication Date: 2020-05

Variant appearance in text: TP53: D49V
PubMed Link: 31844144
Variant Present in the following documents:
  • 41375_2019_691_MOESM7_ESM.xlsx, sheet 2
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: D49V
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s5.xls, sheet 1
View BVdb publication page