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

6 papers

NM_000527.5

p.D569Splc

c.1706-1G>T

Surrounding Variants

11 papers

NM_000527.5

p.D569Splc

c.1706-1G>A

3 papers

NM_000527.5

p.D569Splc

c.1706-1G>C

2 papers

NM_000527.5

p.D569Splc

c.1706-2A>C

4 papers

NM_000527.5

p.D569G

c.1706A>G

1 paper

NM_000527.5

p.D569Splc

c.1706-2A>G

8 papers

NM_000527.5

p.D569Splc

c.1706-2A>T

1 paper

NM_000527.5

p.D569V

c.1706A>T

3 papers

NM_000527.5

p.D569fs

c.1705_1706fs

1 paper

NM_000527.5

p.L570del1

c.1708_1710delCTC

1 paper

NM_000527.5

p.L570I

c.1708C>A

3 papers

NM_000527.5

p.L570F

c.1708C>T

1 paper

NM_000527.5

p.L570P

c.1709T>C