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.V746_P747insFs

c.2238_2239insC

Surrounding Variants

2 papers

NM_000527.5

p.V746V

c.2238T>C

1 paper

NM_000527.5

p.P747_L752del0

c.2240_2254del15

2 papers

NM_000527.5

p.P747_D748insG

c.2239_2243ins3

1 paper

NM_000527.5

p.V746A

c.2237T>C

1 paper

NM_000527.5

p.V746fs

c.2236_2237fs

1 paper

NM_000527.5

p.V746delFs

c.2237delT

7 papers

NM_000527.5

p.D748N

c.2242G>A

1 paper

NM_000527.5

p.D748G

c.2243A>G

1 paper

NM_000527.5

p.T749_S750del2

c.2245_2249del6

1 paper

NM_000527.5

p.P745S

c.2233C>T

18 papers

NM_000527.5

p.R744R

c.2232A>G

NM_001195803.2

p.R566R

c.1698A>G

2 papers

NM_000527.5

p.D748_T749insFs

c.2244_2245insA