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

2 papers

NM_000527.5

p.S206delFs

c.617delG

Surrounding Variants

12 papers

NM_000527.5

p.S206R

c.616A>C

1 paper

NM_000527.5

p.S206G

c.616A>G

1 paper

NM_000527.5

p.G207_C209delFs

c.620_626del7

1 paper

NM_000527.5

p.S206_S213del0

c.618_638del21

1 paper

NM_000527.5

p.S206N

c.617G>A

12 papers

NM_000527.5

p.S206R

c.618T>A

1 paper

NM_000527.5

p.L205P

c.614T>C

12 papers

NM_000527.5

p.S206R

c.618T>G

2 papers

NM_000527.5

p.G207fs

c.619_620fs

3 papers

NM_000527.5

p.G207D

c.620G>A

2 papers

NM_000527.5

p.G207_E208insFs

c.621_622insC

1 paper

NM_000527.5

p.G207insFs

c.620_621insT