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.Y336_E337delFs

c.1007_1010del4

Surrounding Variants

3 papers

NM_000527.5

p.Y336H

c.1006T>C

3 papers

NM_000527.5

p.Y336C

c.1007A>G

2 papers

NM_000527.5

p.Y336delFs

c.1008delC

1 paper

NM_000527.5

p.Y336_F344del0

c.1008_1031del24

1 paper

NM_000527.5

p.G335G

c.1005C>T

2 papers

NM_000527.5

p.Y336*

c.1008C>A

2 papers

NM_000527.5

p.Y336*

c.1008C>G

3 papers

NM_000527.5

p.G335D

c.1004G>A

1 paper

NM_000527.5

p.G335A

c.1004G>C

7 papers

NM_000527.5

p.G335V

c.1004G>T

27 papers

NM_000527.5

p.G335S

c.1003G>A

7 papers

NM_000527.5

p.E337K

c.1009G>A