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.R595fs

c.1783_1784fs

Surrounding Variants

37 papers

NM_000527.5

p.R595W

c.1783C>T

1 paper

NM_000527.5

p.R595_T597delFs

c.1784_1790del7

34 papers

NM_000527.5

p.R595Q

c.1784G>A

4 papers

NM_000527.5

p.R595L

c.1784G>T

1 paper

NM_000527.5

p.N594S

c.1781A>G

1 paper

NM_000527.5

p.N594fs

c.1780_1781fs

4 papers

NM_000527.5

p.K596E

c.1786A>G

1 paper

NM_000527.5

p.N594D

c.1780A>G

2 papers

NM_000527.5

p.K596R

c.1787A>G

1 paper

NM_000527.5

p.K596_T597insFs

c.1788_1789insGT

1 paper

NM_000527.5

p.T597delFs

c.1789delA

1 paper

NM_000527.5

p.G593delFs

c.1779delC