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.V273Splc

c.817+1G>C

Surrounding Variants

12 papers

NM_000527.5

p.V273Splc

c.817+1G>A

1 paper

NM_000527.5

p.V273Splc

c.817+1G>T

1 paper

NM_000527.5

p.V273A

c.818T>C

3 papers

NM_001195799.2

p.V232Splc

c.694+2T>C

NM_000527.5

p.V273Splc

c.817+2T>C

8 papers

NM_000527.5

p.N272T

c.815A>C

1 paper

NM_000527.5

p.N272D

c.814A>G

1 paper

NM_000527.5

p.N272Y

c.814A>T

1 paper

NM_000527.5

p.V273Splc

c.817+6C>T

1 paper

NM_000527.5

p.N272_V273delFs

c.814_817del4

1 paper

NM_000527.5

p.V271A

c.812T>C

11 papers

NM_000527.5

p.V271I

c.811G>A

9 papers

NM_000527.5

p.C270*

c.810C>A