HR c.403C>T ;(p.P135S)

Variant ID: 8-21986281-G-A

NM_005144.4(HR):c.403C>T;(p.P135S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genetic alterations of Keap1 confers chemotherapeutic resistance through functional activation of Nrf2 and Notch pathway in head and neck squamous cell carcinoma.

Cell Death & Disease
Islam, Syed S SS; Qassem, Khawlah K; Islam, Shafiqul S; Parag, Rashed R RR; Rahman, Mohammed Z MZ; Farhat, Walid A WA; Yeger, Herman H; Aboussekhra, Abdelilah A; Karakas, Bedri B; Noman, Abu Shadat M ASM
Publication Date: 2022-08-09

Variant appearance in text: HR: 403C>T
PubMed Link: 35945195
Variant Present in the following documents:
  • 41419_2022_Article_5126.pdf
View BVdb publication page



Increased Myocardial Oxygen Consumption Precedes Contractile Dysfunction in Hypertrophic Cardiomyopathy Caused by Pathogenic TNNT2 Gene Variants.

Journal Of The American Heart Association
Parbhudayal, Rahana Y RY; Harms, Hendrik J HJ; Michels, Michelle M; van Rossum, Albert C AC; Germans, Tjeerd T; van der Velden, Jolanda J
Publication Date: 2020-04-21

Variant appearance in text: HR: 403C>T
PubMed Link: 32290750
Variant Present in the following documents:
  • Main text
  • JAH3-9-e015316.pdf
View BVdb publication page



Novel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese family.

Genetics And Molecular Biology
Liu, Yunqiang Y; Lu, Yongjie Y; Liu, Shasha S; Liao, Shunyao S
Publication Date: 2017

Variant appearance in text: HR: 403C>T
PubMed Link: 28590501
Variant Present in the following documents:
  • 1415-4757-gmb-1678-4685-GMB-2016-0120-Suppl03.pdf
View BVdb publication page