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

7 papers

NM_000527.5

p.F126L

c.378C>A

Surrounding Variants

6 papers

NM_000527.5

p.F126L

c.378C>G

1 paper

NM_000527.5

p.V127delFs

c.379delG

5 papers

NM_000527.5

p.V127I

c.379G>A

2 papers

NM_000527.5

p.V127L

c.379G>C

1 paper

NM_000527.5

p.V127F

c.379G>T

1 paper

NM_000527.5

p.V127fs

c.379_380fs

4 papers

NM_000527.5

p.F126Y

c.377T>A

4 papers

NM_000527.5

p.F126S

c.377T>C

2 papers

NM_000527.5

p.F126delins

c.377_378delinsGG

5 papers

NM_000527.5

p.F126delFs

c.378delC

5 papers

NM_000527.5

p.V127D

c.380T>A

6 papers

NM_000527.5

p.F126L

c.376T>C