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.Y400S

c.1199A>C

Surrounding Variants

1 paper

NM_000527.5

p.Y400C

c.1199A>G

4 papers

NM_000527.5

p.Y400*

c.1200C>A

4 papers

NM_000527.5

p.Y400*

c.1200C>G

1 paper

NM_000527.5

p.Y400N

c.1198T>A

1 paper

NM_000527.5

p.Y400H

c.1198T>C

1 paper

NM_000527.5

p.Y400fs

c.1198_1199fs

1 paper

NM_000527.5

p.Y400insFs

c.1198_1199insTC

1 paper

NM_000527.5

p.A399A

c.1197C>A

15 papers

NM_000527.5

p.L401V

c.1201C>G

2 papers

NM_000527.5

p.L401F

c.1201C>T

8 papers

NM_000527.5

p.F403del1

c.1207_1209delTTC

14 papers

NM_000527.5

p.A399D

c.1196C>A