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.T742_T743insFs

c.2224_2227dup4

Surrounding Variants

2 papers

NM_000527.5

p.T741insFs

c.2221_2222insC

1 paper

NM_000527.5

p.T741A

c.2221A>G

1 paper

NM_000527.5

p.T741K

c.2222C>A

3 papers

NM_000527.5

p.H740H

c.2220C>T

1 paper

NM_000527.5

p.H740R

c.2219A>G

2 papers

NM_000527.5

p.T742insFs

c.2225_2226insC

1 paper

NM_000527.5

p.T742A

c.2224A>G

2 papers

NM_000527.5

p.T742insFs

c.2225_2226insA

6 papers

NM_000527.5

p.T742I

c.2225C>T

1 paper

NM_000527.5

p.Q739R

c.2216A>G

2 papers

NM_000527.5

p.T743insFs

c.2227_2228insC

1 paper

NM_000527.5

p.T743_P745ins1

c.2229_2234dup6