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

3 papers

NM_000527.5

p.C128*

c.384T>A

Surrounding Variants

3 papers

NM_000527.5

p.D129insFs

c.385dupG

7 papers

NM_000527.5

p.C128Y

c.383G>A

7 papers

NM_000527.5

p.D129N

c.385G>A

2 papers

NM_000527.5

p.C128S

c.383G>C

3 papers

NM_000527.5

p.D129insFs

c.386dupA

1 paper

NM_000527.5

p.D129fs

c.385_386fs

5 papers

NM_000527.5

p.C128F

c.383G>T

3 papers

NM_000527.5

p.D129Y

c.385G>T

2 papers

NM_000527.5

p.D129A

c.386A>C

19 papers

NM_000527.5

p.D129G

c.386A>G

1 paper

NM_000527.5

p.D129delFs

c.387delC

2 papers

NM_000527.5

p.D129_G137del0

c.387_410del24