HR c.742C>T ;(p.L248=)

Variant ID: 8-21985213-G-A

NM_005144.4(HR):c.742C>T;(p.L248=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Integrated longitudinal analysis of adult grade 4 diffuse gliomas with long-term relapse interval revealed upregulation of TGF-β signaling in recurrent tumors.

Neuro-Oncology
Kashani, Elham E; Schnidrig, Désirée D; Hashemi Gheinani, Ali A; Ninck, Martina Selina MS; Zens, Philipp P; Maragkou, Theoni T; Baumgartner, Ulrich U; Schucht, Philippe P; Rätsch, Gunnar G; Rubin, Mark A MA; Berezowska, Sabina S; Ng, Charlotte K Y CKY; Vassella, Erik E; ,
Publication Date: 2022-09-17

Variant appearance in text: HR: 742C>T
PubMed Link: 36124685
Variant Present in the following documents:
  • noac220_suppl_supplementary_table_s3.xlsx, sheet 1
View BVdb publication page



Discovery and Protein Modeling Studies of Novel Compound Mutations Causing Resistance to Multiple Tyrosine Kinase Inhibitors in Chronic Myeloid Leukemia.

Asian Pacific Journal Of Cancer Prevention : Apjcp
Iqbal, Zafar Z; Absar, Muhammad M; Mahmood, Amer A; Aleem, Aamer A; Iqbal, Mudassar M; Jameel, Abid A; Akhtar, Tanveer T; Karim, Sajjad S; Rasool, Mahmood M; Mirza, Zeenat Z; Khalid, Muhammad M; Akram, Afia Muhammad AM; Sabar, Muhammad Farooq MF; Khalid, Ahmad M AM; Aljarrah, Khalid K; Iqbal, Janhangir J; Khalid, Muhammad M; Shah, Ijaz H IH; Alanazi, Nawaf N
Publication Date: 2020-12-01

Variant appearance in text: HR: L248L
PubMed Link: 33369447
Variant Present in the following documents:
  • Main text
  • APJCP-21-3517.pdf
View BVdb publication page



TP53 germline mutations in the context of families with hereditary breast and ovarian cancer: a clinical challenge.

Archives Of Gynecology And Obstetrics
Grill, Sabine S; Ramser, Juliane J; Hellebrand, Heide H; Pfarr, Nicole N; Boxberg, Melanie M; Brambs, Christine C; Ditsch, Nina N; Meindl, Alfons A; Groß, Eva E; Meitinger, Thomas T; Kiechle, Marion M; Quante, Anne S AS
Publication Date: 2021-06

Variant appearance in text: HR: 742C>T
PubMed Link: 33245408
Variant Present in the following documents:
  • 404_2020_5883_MOESM1_ESM.pdf
View BVdb publication page



TP53 germline mutations in the context of families with hereditary breast and ovarian cancer: a clinical challenge.

Archives Of Gynecology And Obstetrics
Grill, Sabine S; Ramser, Juliane J; Hellebrand, Heide H; Pfarr, Nicole N; Boxberg, Melanie M; Brambs, Christine C; Ditsch, Nina N; Meindl, Alfons A; Groß, Eva E; Meitinger, Thomas T; Kiechle, Marion M; Quante, Anne S AS
Publication Date: 2021-06

Variant appearance in text: HR: 742C>T
PubMed Link: 33245408
Variant Present in the following documents:
  • 404_2020_5883_MOESM1_ESM.pdf
View BVdb publication page