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.R81L

c.242G>T

Surrounding Variants

2 papers

NM_000527.5

p.R81H

c.242G>A

8 papers

NM_000527.5

p.R81S

c.241C>A

2 papers

NM_000527.5

p.R81insFs

c.242dupG

1 paper

NM_000527.5

p.R81G

c.241C>G

36 papers

NM_000527.5

p.R81C

c.241C>T

1 paper

NM_000527.5

p.C82del1

c.244_245delTGC

1 paper

NM_000527.5

p.C82delFs

c.244delT

4 papers

NM_000527.5

p.N80K

c.240C>A

5 papers

NM_000527.5

p.N80K

c.240C>G

5 papers

NM_000527.5

p.C82S

c.244T>A

2 papers

NM_000527.5

p.C82R

c.244T>C

4 papers

NM_000527.5

p.C82G

c.244T>G