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

3 papers

NM_000527.5

p.G636D

c.1907G>A

Surrounding Variants

4 papers

NM_000527.5

p.G636V

c.1907G>T

6 papers

NM_000527.5

p.G636S

c.1906G>A

1 paper

NM_000527.5

p.T635T

c.1905A>G

1 paper

NM_000527.5

p.S637P

c.1909T>C

4 papers

NM_000527.5

p.S637delFs

c.1910delC

1 paper

NM_000527.5

p.S637C

c.1910C>G

1 paper

NM_000527.5

p.T635I

c.1904C>T

1 paper

NM_000527.5

p.T635A

c.1903A>G

1 paper

NM_000527.5

p.T635fs

c.1903_1904fs

2 papers

NM_000527.5

p.S637S

c.1911C>T

2 papers

NM_000527.5

p.D638N

c.1912G>A

1 paper

NM_000527.5

p.D638H

c.1912G>C