LDLR c.2458_2459delinsGA ;(p.S820D)

Variant ID: 19-11240257-AG-GA

NM_000527.4(LDLR):c.2458_2459delinsGA;(p.S820D)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


FERM-dependent E3 ligase recognition is a conserved mechanism for targeted degradation of lipoprotein receptors.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Calkin, Anna C AC; Goult, Benjamin T BT; Zhang, Li L; Fairall, Louise L; Hong, Cynthia C; Schwabe, John W R JW; Tontonoz, Peter P
Publication Date: 2011-12-13

Variant appearance in text: LDLR: S820D
PubMed Link: 22109552
Variant Present in the following documents:
  • Main text
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