GJA4 c.772C>T ;(p.P258S)

Variant ID: 1-35260586-C-T

NM_002060.2(GJA4):c.772C>T;(p.P258S)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications
Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S
Publication Date: 2022-11

Variant appearance in text: GJA4: P258S; rs28739284
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



A common African variant of human connexin 37 is associated with Caucasian primary ovarian insufficiency and has a deleterious effect in vitro.

International Journal Of Molecular Medicine
Bachelot, Anne A; Gilleron, Jerome J; Meduri, Geri G; Guberto, Mihelai M; Dulon, Jerome J; Boucherie, Sylviane S; Touraine, Philippe P; Misrahi, Micheline M
Publication Date: 2018-02

Variant appearance in text: GJA4: Pro258Ser; rs28739284
PubMed Link: 29207017
Variant Present in the following documents:
  • Main text
  • ijmm-41-02-0640.pdf
View BVdb publication page



Clonal relationships between lobular carcinoma in situ and other breast malignancies.

Breast Cancer Research : Bcr
Begg, Colin B CB; Ostrovnaya, Irina I; Carniello, Jose V Scarpa JV; Sakr, Rita A RA; Giri, Dilip D; Towers, Russell R; Schizas, Michail M; De Brot, Marina M; Andrade, Victor P VP; Mauguen, Audrey A; Seshan, Venkatraman E VE; King, Tari A TA
Publication Date: 2016-06-23

Variant appearance in text: GJA4: P258S
PubMed Link: 27334989
Variant Present in the following documents:
  • 13058_2016_727_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: GJA4: P258S; rs28739284
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page