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

17 papers

NM_000527.5

p.E418K

c.1252G>A

Surrounding Variants

1 paper

NM_000527.5

p.E418_I423insFs

c.1253_1269dup17

5 papers

NM_000527.5

p.E418*

c.1252G>T

4 papers

NM_000527.5

p.E418G

c.1253A>G

1 paper

NM_000527.5

p.E418V

c.1253A>T

1 paper

NM_000527.5

p.S417fs

c.1249_1250fs

1 paper

NM_000527.5

p.S417G

c.1249A>G

1 paper

NM_000527.5

p.S417fs

c.1249_1250fs

4 papers

NM_000527.5

p.Y419H

c.1255T>C

13 papers

NM_000527.5

p.Y419D

c.1255T>G

1 paper

NM_000527.5

p.Y419C

c.1256A>G

17 papers

NM_000527.5

p.Y419*

c.1257C>A

21 papers

NM_000527.5

p.Y419*

c.1257C>G