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.C143F

c.428G>T

Surrounding Variants

14 papers

NM_000527.5

p.C143Y

c.428G>A

7 papers

NM_000527.5

p.C143S

c.428G>C

1 paper

NM_000527.5

p.P144insFs

c.431dupC

20 papers

NM_000527.5

p.C143*

c.429C>A

3 papers

NM_000527.5

p.C143W

c.429C>G

9 papers

NM_000527.5

p.C143S

c.427T>A

13 papers

NM_000527.5

p.C143R

c.427T>C

5 papers

NM_000527.5

p.C143G

c.427T>G

1 paper

NM_000527.5

p.S142S

c.426C>A

1 paper

NM_000527.5

p.P144insFs

c.430_431insA

2 papers

NM_000527.5

p.S142S

c.426C>G

1 paper

NM_000527.5

p.P144A

c.430C>G