HR c.1864T>G ;(p.C622G)

Variant ID: 8-21981213-A-C

NM_005144.4(HR):c.1864T>G;(p.C622G)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The roles of Jumonji-type oxygenases in human disease.

Epigenomics
Johansson, Catrine C; Tumber, Anthony A; Che, KaHing K; Cain, Peter P; Nowak, Radosław R; Gileadi, Carina C; Oppermann, Udo U
Publication Date: 2014-02

Variant appearance in text: HR: C622G
PubMed Link: 24579949
Variant Present in the following documents:
  • Main text
  • emss-57740.pdf
View BVdb publication page



Analysis of hairless corepressor mutants to characterize molecular cooperation with the vitamin D receptor in promoting the mammalian hair cycle.

Journal Of Cellular Biochemistry
Hsieh, Jui-Cheng JC; Slater, Stephanie A SA; Whitfield, G Kerr GK; Dawson, Jamie L JL; Hsieh, Grace G; Sheedy, Craig C; Haussler, Carol A CA; Haussler, Mark R MR
Publication Date: 2010-06-01

Variant appearance in text: HR: C622G
PubMed Link: 20512927
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hairless is a nuclear receptor corepressor essential for skin function.

Nuclear Receptor Signaling
Thompson, Catherine C CC
Publication Date: 2009-12-31

Variant appearance in text: HR: C622G
PubMed Link: 20087431
Variant Present in the following documents:
  • Main text
  • nrs07010000.pdf
View BVdb publication page