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.N169fs

c.505_506fs

Surrounding Variants

2 papers

NM_000527.5

p.N169insFs

c.505_506insC

2 papers

NM_000527.5

p.N169insFs

c.505_506insG

1 paper

NM_000527.5

p.N169H

c.505A>C

2 papers

NM_000527.5

p.N169D

c.505A>G

1 paper

NM_000527.5

p.N169Y

c.505A>T

1 paper

NM_000527.5

p.N169fs

c.505_506fs

1 paper

NM_000527.5

p.N169S

c.506A>G

4 papers

NM_000527.5

p.N169I

c.506A>T

10 papers

NM_000527.5

p.D168E

c.504C>A

2 papers

NM_000527.5

p.D168_N169insFs

c.504_505insA

9 papers

NM_000527.5

p.D168E

c.504C>G

1 paper

NM_000527.5

p.N169delFs

c.506delA