LRP1 c.9434G>A ;(p.R3145H)

Variant ID: 12-57592090-G-A

NM_002332.2(LRP1):c.9434G>A;(p.R3145H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Journal Of Lipid Research
Dong, Weilai W; Wong, Karen H Y KHY; Liu, Youbin Y; Levy-Sakin, Michal M; Hung, Wei-Chien WC; Li, Mo M; Li, Boyang B; Jin, Sheng Chih SC; Choi, Jungmin J; Lopez-Giraldez, Francesc F; Vaka, Dedeepya D; Poon, Annie A; Chu, Catherine C; Lao, Richard R; Balamir, Melek M; Movsesyan, Irina I; Malloy, Mary J MJ; Zhao, Hongyu H; Kwok, Pui-Yan PY; Kane, John P JP; Lifton, Richard P RP; Pullinger, Clive R CR
Publication Date: 2022-06

Variant appearance in text: rs370217380
PubMed Link: 35460704
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Searching for ancient balanced polymorphisms shared between Neanderthals and Modern Humans.

Genetics And Molecular Biology
Viscardi, Lucas Henriques LH; Paixão-Côrtes, Vanessa Rodrigues VR; Comas, David D; Salzano, Francisco Mauro FM; Rovaris, Diego D; Bau, Claiton Dotto CD; Amorim, Carlos Eduardo G CEG; Bortolini, Maria Cátira MC
Publication Date: 2018

Variant appearance in text: rs370217380
PubMed Link: 29658973
Variant Present in the following documents:
  • Main text
  • 1415-4757-GMB-41-01-2017-0308.pdf
View BVdb publication page