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

13 papers

NM_000527.5

p.D569Splc

c.1705+1G>A

Surrounding Variants

5 papers

NM_000527.5

p.D569G

c.1706A>G

1 paper

NM_000527.5

p.D569V

c.1706A>T

6 papers

NM_000527.5

p.D569Splc

c.1705+1G>C

7 papers

NM_000527.5

p.D569Splc

c.1705+1G>T

2 papers

NM_000527.5

p.D569N

c.1705G>A

4 papers

NM_000527.5

p.D569Y

c.1705G>T

1 paper

NM_000527.5

p.D569Splc

c.1705+2T>C

1 paper

NM_000527.5

p.D569Splc

c.1705+2T>G

5 papers

NM_000527.5

p.L568P

c.1703T>C

33 papers

NM_000527.5

p.L568V

c.1702C>G

3 papers

NM_000527.5

p.D569insFs

c.1705_1706ins4

1 paper

NM_000527.5

p.T567N

c.1700C>A