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

1 paper

NM_000527.5

p.R88fs

c.262_263fs

Surrounding Variants

4 papers

NM_000527.5

p.R88G

c.262A>G

4 papers

NM_000527.5

p.R88W

c.262A>T

2 papers

NM_000527.5

p.R88delins

c.262_264delinsTTT

17 papers

NM_000527.5

p.W87*

c.261G>A

5 papers

NM_000527.5

p.R88K

c.263G>A

1 paper

NM_000527.5

p.W87C

c.261G>C

2 papers

NM_000527.5

p.R88M

c.263G>T

1 paper

NM_000527.5

p.W87_R88delins

c.261_262delinsAG

17 papers

NM_000527.5

p.W87*

c.260G>A

6 papers

NM_000527.5

p.R88S

c.264G>C

1 paper

NM_000527.5

p.R88_C89insFs

c.264_265insA

8 papers

NM_000527.5

p.R88S

c.264G>T