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.Y419*

c.1257C>A

Surrounding Variants

21 papers

NM_000527.5

p.Y419*

c.1257C>G

1 paper

NM_000527.5

p.Y419Y

c.1257C>T

1 paper

NM_000527.5

p.T420insFs

c.1258_1259insAG

2 papers

NM_000527.5

p.T420insFs

c.1258_1259insC

3 papers

NM_000527.5

p.T420P

c.1258A>C

1 paper

NM_000527.5

p.Y419C

c.1256A>G

1 paper

NM_000527.5

p.T420A

c.1258A>G

2 papers

NM_000527.5

p.T420N

c.1259C>A

4 papers

NM_000527.5

p.Y419H

c.1255T>C

13 papers

NM_000527.5

p.Y419D

c.1255T>G

3 papers

NM_000527.5

p.S421R

c.1261A>C

4 papers

NM_000527.5

p.E418G

c.1253A>G