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

2 papers

NM_000527.5

p.C368S

c.1103G>C

Surrounding Variants

14 papers

NM_000527.5

p.C368Y

c.1103G>A

1 paper

NM_000527.5

p.C368F

c.1103G>T

3 papers

NM_000527.5

p.C368*

c.1104C>A

2 papers

NM_000527.5

p.C368S

c.1102T>A

8 papers

NM_000527.5

p.C368R

c.1102T>C

3 papers

NM_000527.5

p.C368G

c.1102T>G

8 papers

NM_000527.5

p.V369M

c.1105G>A

1 paper

NM_000527.5

p.L367H

c.1100T>A

1 paper

NM_000527.5

p.L367P

c.1100T>C

1 paper

NM_000527.5

p.V369A

c.1106T>C

1 paper

NM_000527.5

p.L367_C368Fs

c.1099_1104delinsGTFs

1 paper

NM_000527.5

p.N370H

c.1108A>C