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.Q722R

c.2165A>G

Surrounding Variants

3 papers

NM_000527.5

p.E723delFs

c.2167delG

2 papers

NM_000527.5

p.Q722E

c.2164C>G

2 papers

NM_000527.5

p.Q722*

c.2164C>T

1 paper

NM_000527.5

p.T721T

c.2163C>T

1 paper

NM_000527.5

p.E723K

c.2167G>A

9 papers

NM_000527.5

p.E723*

c.2167G>T

2 papers

NM_000527.5

p.E723fs

c.2167_2168fs

2 papers

NM_000527.5

p.E723G

c.2168A>G

3 papers

NM_000527.5

p.T721I

c.2162C>T

1 paper

NM_000527.5

p.T721A

c.2161A>G

1 paper

NM_000527.5

p.T724P

c.2170A>C

1 paper

NM_000527.5

p.T724A

c.2170A>G