GJB1 c.536G>C ;(p.C179S)

Variant ID: X-70444093-G-C

NM_000166.5(GJB1):c.536G>C;(p.C179S)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Comprehensive Molecular Characterization of Soft Tissue Sarcoma for Prediction of Pazopanib-Based Treatment Response.

Cancer Research And Treatment
Hong, Jung Yong JY; Cho, Hee Jin HJ; Yun, Kum-Hee KH; Lee, Young Han YH; Kim, Seung Hyun SH; Baek, Wooyeol W; Kim, Sang Kyum SK; Lee, Yurimi Y; Choi, Yoon-La YL; Kwon, Minsuk M; Kim, Hyo Song HS; Lee, Jeeyun J
Publication Date: 2022-09-27

Variant appearance in text: GJB1: C179S
PubMed Link: 36164943
Variant Present in the following documents:
  • crt-2022-251-Supplementary-Table-2.xlsx, sheet 1
View BVdb publication page



Tracking Neoantigens by Personalized Circulating Tumor DNA Sequencing during Checkpoint Blockade Immunotherapy in Non-Small Cell Lung Cancer.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
Jia, Qingzhu Q; Chiu, Luting L; Wu, Shuangxiu S; Bai, Jian J; Peng, Lina L; Zheng, Linpeng L; Zang, Rui R; Li, Xueqin X; Yuan, Bibo B; Gao, Yixing Y; Wu, Dingyong D; Li, Xiaohong X; Wu, Lin L; Sun, Jianguo J; He, Ji J; Robinson, Bruce W S BWS; Zhu, Bo B
Publication Date: 2020-05

Variant appearance in text: GJB1: 536G>C; C179S
PubMed Link: 32382482
Variant Present in the following documents:
  • ADVS-7-1903410-s005.xlsx, sheet 8
  • ADVS-7-1903410-s004.xlsx, sheet 1
View BVdb publication page



Clinico-Electrophysiological and Genetic Overlaps and Magnetic Resonance Imaging Findings in Charcot-Marie- Tooth Disease: A Pilot Study from Western India.

Annals Of Indian Academy Of Neurology
Khadilkar, Satish Vasant SV; Patil, Nahush D ND; Kadam, Nikhil Dhananjay ND; Mansukhani, Khushnuma A KA; Patel, Bhagyadhan A BA
Publication Date: 2017

Variant appearance in text: GJB1: 536G>C; Cys179Ser
PubMed Link: 29184351
Variant Present in the following documents:
  • AIAN-20-425.pdf
View BVdb publication page



Structural basis for the selective permeability of channels made of communicating junction proteins.

Biochimica Et Biophysica Acta
Ek-Vitorin, Jose F JF; Burt, Janis M JM
Publication Date: 2013-01

Variant appearance in text: CX32: C179S
PubMed Link: 22342665
Variant Present in the following documents:
  • Main text
View BVdb publication page