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

4 papers

NM_000527.5

p.V524M

c.1570G>A

Surrounding Variants

1 paper

NM_000527.5

p.V524L

c.1570G>C

1 paper

NM_000527.5

p.V524fs

c.1570_1571fs

1 paper

NM_000527.5

p.V524L

c.1570G>T

1 paper

NM_000527.5

p.V524fs

c.1570_1571fs

1 paper

NM_000527.5

p.V524_H528delFs

c.1570_1582del13

1 paper

NM_000527.5

p.V524A

c.1571T>C

4 papers

NM_000527.5

p.V524G

c.1571T>G

1 paper

NM_000527.5

p.V523A

c.1568T>C

79 papers

NM_000527.5

p.V523M

c.1567G>A

3 papers

NM_000527.5

p.D525N

c.1573G>A

8 papers

NM_000527.5

p.V523L

c.1567G>C

8 papers

NM_000527.5

p.V523L

c.1567G>T