LDLR c.1865A>G ;(p.D622G)

Variant ID: 19-11230787-A-G

NM_000527.4(LDLR):c.1865A>G;(p.D622G)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia.

Genes
Madar, László L; Juhász, Lilla L; Szűcs, Zsuzsanna Z; Kerkovits, Lóránt L; Harangi, Mariann M; Balogh, István I
Publication Date: 2022-01-15

Variant appearance in text: LDLR: 1865A>G; Asp622Gly
PubMed Link: 35052492
Variant Present in the following documents:
  • Main text
  • genes-13-00153.pdf
View BVdb publication page



Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia.

Genes
Madar, László L; Juhász, Lilla L; Szűcs, Zsuzsanna Z; Kerkovits, Lóránt L; Harangi, Mariann M; Balogh, István I
Publication Date: 2022-01-15

Variant appearance in text: LDLR: 1865A>G; Asp622Gly
PubMed Link: 35052492
Variant Present in the following documents:
  • Main text
  • genes-13-00153.pdf
View BVdb publication page



Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation.

Frontiers In Genetics
Chunn, Lauren M LM; Nefcy, Diane C DC; Scouten, Rachel W RW; Tarpey, Ryan P RP; Chauhan, Gurinder G; Lim, Megan S MS; Elenitoba-Johnson, Kojo S J KSJ; Schwartz, Steven A SA; Kiel, Mark J MJ
Publication Date: 2020

Variant appearance in text: LDLR: D622G
PubMed Link: 33281875
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proteostasis Regulation in the Endoplasmic Reticulum: An Emerging Theme in the Molecular Pathology and Therapeutic Management of Familial Hypercholesterolemia.

Frontiers In Genetics
Oommen, Deepu D; Kizhakkedath, Praseetha P; Jawabri, Aseel A AA; Varghese, Divya Saro DS; Ali, Bassam R BR
Publication Date: 2020

Variant appearance in text: LDLR: 1865A>G; Asp622Gly; rs879255060
PubMed Link: 33173538
Variant Present in the following documents:
  • Main text
  • fgene-11-570355.pdf
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: LDLR: D622G
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.

Scientific Reports
Galicia-Garcia, Unai U; Benito-Vicente, Asier A; Uribe, Kepa B KB; Jebari, Shifa S; Larrea-Sebal, Asier A; Alonso-Estrada, Rocio R; Aguilo-Arce, Joseba J; Ostolaza, Helena H; Palacios, Lourdes L; Martin, Cesar C
Publication Date: 2020-02-03

Variant appearance in text: LDLR: Asp622Gly
PubMed Link: 32015373
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_58734.pdf
  • 41598_2020_58734_MOESM1_ESM.pdf
View BVdb publication page