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

7 papers

NM_000527.5

p.Y532C

c.1595A>G

Surrounding Variants

1 paper

NM_000527.5

p.Y532N

c.1594T>A

5 papers

NM_000527.5

p.Y532H

c.1594T>C

1 paper

NM_000527.5

p.Y532insFs

c.1595_1596dupAC

2 papers

NM_000527.5

p.T534_W536del0

c.1600_1608del9

1 paper

NM_000527.5

p.M531I

c.1593G>A

1 paper

NM_000527.5

p.M531I

c.1593G>C

1 paper

NM_000527.5

p.M531I

c.1593G>T

6 papers

NM_000527.5

p.W533R

c.1597T>A

9 papers

NM_000527.5

p.W533R

c.1597T>C

1 paper

NM_000527.5

p.W533fs

c.1597_1598fs

12 papers

NM_000527.5

p.W533*

c.1598G>A

1 paper

NM_000527.5

p.W533_G537delFs

c.1599_1611del13