GJB1 c.535T>A ;(p.C179S)

Variant ID: X-70444092-T-A

NM_000166.5(GJB1):c.535T>A;(p.C179S)

This variant was identified in 2 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



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