HR c.1748A>T ;(p.E583V)

Variant ID: 8-21982826-T-A

NM_005144.4(HR):c.1748A>T;(p.E583V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: E583V
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: E583V
PubMed Link: 20087431
Variant Present in the following documents:
  • Main text
  • nrs07010000.pdf
View BVdb publication page