LDLR c.53C>A ;(p.A18E)

Variant ID: 19-11200277-C-A

NM_000527.4(LDLR):c.53C>A;(p.A18E)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Observing the nonvectorial yet cotranslational folding of a multidomain protein, LDL receptor, in the ER of mammalian cells.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Kadokura, Hiroshi H; Dazai, Yui Y; Fukuda, Yo Y; Hirai, Naoya N; Nakamura, Orie O; Inaba, Kenji K
Publication Date: 2020-07-14

Variant appearance in text: LDLR: A18E
PubMed Link: 32601215
Variant Present in the following documents:
  • Main text
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