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

6 papers

NM_000527.5

p.E267A

c.800A>C

Surrounding Variants

1 paper

NM_000527.5

p.E267G

c.800A>G

1 paper

NM_000527.5

p.E267V

c.800A>T

3 papers

NM_000527.5

p.E267D

c.801A>C

4 papers

NM_000527.5

p.E267D

c.801A>T

9 papers

NM_000527.5

p.E267K

c.799G>A

5 papers

NM_000527.5

p.E267*

c.799G>T

1 paper

NM_000527.5

p.V268I

c.802G>A

2 papers

NM_000527.5

p.V268_C270ins1

c.803_808dup6

1 paper

NM_000527.5

p.V268_C270del0

c.803_808del6

1 paper

NM_000527.5

p.V268_V271delFs

c.803_812del10

63 papers

NM_000527.5

p.D266E

c.798T>A

2 papers

NM_000527.5

p.D266D

c.798T>C