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.H407Q

c.1221C>G

Surrounding Variants

3 papers

NM_000527.5

p.H407Q

c.1221C>A

2 papers

NM_000527.5

p.H407_E408insFs

c.1221_1222insG

1 paper

NM_000527.5

p.H407H

c.1221C>T

1 paper

NM_000527.5

p.H407_E408Fs

c.1221_1222delinsTFs

2 papers

NM_000527.5

p.H407R

c.1220A>G

49 papers

NM_000527.5

p.E408K

c.1222G>A

1 paper

NM_000527.5

p.E408insFs

c.1222_1223ins5

1 paper

NM_000527.5

p.E408fs

c.1222_1223fs

2 papers

NM_000527.5

p.E408A

c.1223A>C

2 papers

NM_000527.5

p.E408G

c.1223A>G

6 papers

NM_000527.5

p.E408V

c.1223A>T

1 paper

NM_000527.5

p.H407fs

c.1219_1220fs