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.R778G

c.2332A>G

Surrounding Variants

5 papers

NM_000527.5

p.R778insFs

c.2332dupA

1 paper

NM_000527.5

p.R778insFs

c.2333_2334insC

2 papers

NM_000527.5

p.R778I

c.2333G>T

1 paper

NM_000527.5

p.G779fs

c.2335_2336fs

1 paper

NM_000527.5

p.G779delFs

c.2336_2337delGA

1 paper

NM_000527.5

p.G779fs

c.2335_2336fs

2 papers

NM_000527.5

p.G779insFs

c.2336_2337insA

2 papers

NM_000527.5

p.A776_G777insFs

c.2328_2329insA

2 papers

NM_000527.5

p.A776_G777insFs

c.2328_2329insG

1 paper

NM_000527.5

p.G779_N780insFs

c.2337_2338ins4

1 paper

NM_000527.5

p.N780_V793del14

c.2338_2378del42

1 paper

NM_000527.5

p.A776V

c.2327C>T