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.L794delFs

c.2381_2382delTC

Surrounding Variants

3 papers

NM_000527.5

p.L794F

c.2380C>T

1 paper

NM_000527.5

p.L794fs

c.2380_2381fs

2 papers

NM_000527.5

p.V793I

c.2377G>A

1 paper

NM_000527.5

p.L794P

c.2381T>C

1 paper

NM_000527.5

p.L794R

c.2381T>G

2 papers

NM_000527.5

p.L794insFs

c.2381_2382insC

2 papers

NM_000527.5

p.P795delFs

c.2385delC

1 paper

NM_000527.5

p.P795A

c.2383C>G

6 papers

NM_000527.5

p.I792T

c.2375T>C

2 papers

NM_000527.5

p.I792V

c.2374A>G

5 papers

NM_000527.5

p.I792F

c.2374A>T

6 papers

NM_000527.5

p.P795H

c.2384C>A