GJB1 c.34_35delinsTA ;(p.G12Y)

Variant ID: X-70443591-GG-TA

NM_000166.5(GJB1):c.34_35delinsTA;(p.G12Y)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The Complex and Critical Role of Glycine 12 (G12) in Beta-Connexins of Human Skin.

International Journal Of Molecular Sciences
Bailey, Rasheed A RA; Beahm, Derek L DL; Skerrett, I Martha IM
Publication Date: 2021-03-05

Variant appearance in text: CMTX: G12Y
PubMed Link: 33807656
Variant Present in the following documents:
  • Main text
  • ijms-22-02615.pdf
View BVdb publication page



Structural studies of N-terminal mutants of connexin 32 using (1)H NMR spectroscopy.

Archives Of Biochemistry And Biophysics
Kalmatsky, B D BD; Batir, Y Y; Bargiello, T A TA; Dowd, T L TL
Publication Date: 2012-10-01

Variant appearance in text: CMTX: G12Y
PubMed Link: 22705201
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structural studies of the N-terminus of Connexin 32 using 1H NMR spectroscopy.

Archives Of Biochemistry And Biophysics
Kalmatsky, B D BD; Bhagan, S S; Tang, Q Q; Bargiello, T A TA; Dowd, T L TL
Publication Date: 2009-10-01

Variant appearance in text: CMTX: G12Y
PubMed Link: 19638273
Variant Present in the following documents:
  • Main text
View BVdb publication page