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.S326F

c.977C>T

Surrounding Variants

16 papers

NM_000527.5

p.S326C

c.977C>G

4 papers

NM_000527.5

p.S326P

c.976T>C

2 papers

NM_000527.5

p.S326insFs

c.976_977insC

1 paper

NM_000527.5

p.H327delFs

c.979delC

3 papers

NM_000527.5

p.H327insFs

c.980_981insA

1 paper

NM_000527.5

p.H327fs

c.979_980fs

14 papers

NM_000527.5

p.H327Y

c.979C>T

2 papers

NM_000527.5

p.H327fs

c.979_980fs

2 papers

NM_000527.5

p.H327R

c.980A>G

2 papers

NM_000527.5

p.H327L

c.980A>T

13 papers

NM_000527.5

p.C325Y

c.974G>A

2 papers

NM_000527.5

p.C325insFs

c.974_975insT