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.C148F

c.443G>T

Surrounding Variants

10 papers

NM_000527.5

p.C148Y

c.443G>A

14 papers

NM_000527.5

p.C148S

c.443G>C

10 papers

NM_000527.5

p.C148S

c.442T>A

3 papers

NM_000527.5

p.C148*

c.444T>A

8 papers

NM_000527.5

p.C148R

c.442T>C

8 papers

NM_000527.5

p.C148W

c.444T>G

3 papers

NM_000527.5

p.C148G

c.442T>G

2 papers

NM_000527.5

p.G149S

c.445G>A

3 papers

NM_000527.5

p.G149R

c.445G>C

2 papers

NM_000527.5

p.G149fs

c.445_446fs

7 papers

NM_000527.5

p.G149C

c.445G>T

6 papers

NM_000527.5

p.T147I

c.440C>T