Varaico: Literature-Extracted Genetic Variants

LDLR

2,667 papers

RefSeq Summary

The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. The encoded protein is normally bound at the ce...

Pfam Domains

Ldl_recept_aaa 25–63UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 66–104UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 107–143UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 146–184UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 195–231UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 234–270UCSCLow-density lipoprotein receptor domain class A

Gene Aliases

HGNC Name

low density lipoprotein receptor

HGNC Alias Symbol

LDLCQ2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000527.5

p.S673_L682del10

c.2017_2045del30

Surrounding Variants

3 papers

NM_000527.5

p.S673R

c.2017A>C

1 paper

NM_000527.5

p.S673G

c.2017A>G

1 paper

NM_000527.5

p.L672P

c.2015T>C

2 papers

NM_000527.5

p.L672_S673insA

c.2014_2018ins3

3 papers

NM_000527.5

p.L672delFs

c.2015delT

2 papers

NM_000527.5

p.L672fs

c.2014_2015fs

2 papers

NM_000527.5

p.S673R

c.2019C>A

2 papers

NM_000527.5

p.S673R

c.2019C>G

1 paper

NM_000527.5

p.N674D

c.2020A>G

1 paper

NM_000527.5

p.T671N

c.2012C>A

1 paper

NM_000527.5

p.T671I

c.2012C>T

1 paper

NM_000527.5

p.T671A

c.2011A>G