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

3 papers

NM_000527.5

p.S470G

c.1408A>G

Surrounding Variants

3 papers

NM_000527.5

p.S470C

c.1408A>T

1 paper

NM_000527.5

p.I469I

c.1407C>T

1 paper

NM_000527.5

p.S470_R471Fs

c.1410_1413delinsAGGFs

1 paper

NM_000527.5

p.I469T

c.1406T>C

2 papers

NM_000527.5

p.R471insFs

c.1411_1412insG

5 papers

NM_000527.5

p.R471G

c.1411A>G

3 papers

NM_000527.5

p.I469V

c.1405A>G

1 paper

NM_000527.5

p.R471K

c.1412G>A

27 papers

NM_000527.5

p.R471R

c.1413A>G

1 paper

NM_000527.5

p.R471S

c.1413A>T

2 papers

NM_000527.5

p.R471_D472Fs

c.1413_1414delinsGGACATFs

1 paper

NM_000527.5

p.D472_D477del0

c.1415_1429del15