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.K541N

c.1623G>T

Surrounding Variants

1 paper

NM_000527.5

p.K541N

c.1623G>C

3 papers

NM_000527.5

p.I542V

c.1624A>G

1 paper

NM_000527.5

p.K541E

c.1621A>G

5 papers

NM_000527.5

p.I542N

c.1625T>A

1 paper

NM_000527.5

p.I542T

c.1625T>C

3 papers

NM_000527.5

p.I542S

c.1625T>G

1 paper

NM_000527.5

p.A540A

c.1620C>A

1 paper

NM_000527.5

p.A540A

c.1620C>G

1 paper

NM_000527.5

p.K543delFs

c.1628delA

2 papers

NM_000527.5

p.K543E

c.1627A>G

1 paper

NM_000527.5

p.K543_D551del0

c.1629_1652del24

56 papers

NM_000527.5

p.A540T

c.1618G>A