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

87 papers

NM_000527.5

p.C681*

c.2043C>A

Surrounding Variants

4 papers

NM_000527.5

p.C681W

c.2043C>G

1 paper

NM_000527.5

p.C681C

c.2043C>T

1 paper

NM_000527.5

p.L682_P683ins9

c.2044_2048ins27

1 paper

NM_000527.5

p.L682_P683ins13

c.2044_2048ins39

6 papers

NM_000527.5

p.L682F

c.2044C>T

5 papers

NM_000527.5

p.C681Y

c.2042G>A

8 papers

NM_000527.5

p.C681S

c.2042G>C

1 paper

NM_000527.5

p.L682_P683delFs

c.2046_2049del4

6 papers

NM_000527.5

p.C681S

c.2041T>A

4 papers

NM_000527.5

p.L682P

c.2045T>C

1 paper

NM_000527.5

p.C681R

c.2041T>C

3 papers

NM_000527.5

p.C681G

c.2041T>G