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.E312D

c.936G>C

Surrounding Variants

2 papers

NM_000527.5

p.E312D

c.936G>T

2 papers

NM_000527.5

p.E312G

c.935A>G

1 paper

NM_000527.5

p.C313S

c.937T>A

2 papers

NM_000527.5

p.C313R

c.937T>C

3 papers

NM_000527.5

p.C313G

c.937T>G

18 papers

NM_000527.5

p.C313Y

c.938G>A

1 paper

NM_000527.5

p.C313S

c.938G>C

2 papers

NM_000527.5

p.E312insFs

c.934_935insA

2 papers

NM_000527.5

p.E312_C313insC

c.934_938ins3

2 papers

NM_000527.5

p.E312*

c.934G>T

4 papers

NM_000527.5

p.E312fs

c.934_935fs

21 papers

NM_000527.5

p.C313*

c.939C>A