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.N156I

c.467A>T

Surrounding Variants

1 paper

NM_000527.5

p.N156S

c.467A>G

1 paper

NM_000527.5

p.N156H

c.466A>C

2 papers

NM_000527.5

p.N156D

c.466A>G

1 paper

NM_000527.5

p.N156Y

c.466A>T

1 paper

NM_000527.5

p.N156K

c.468C>A

1 paper

NM_000527.5

p.N156K

c.468C>G

1 paper

NM_000527.5

p.S157R

c.469A>C

2 papers

NM_000527.5

p.S157G

c.469A>G

1 paper

NM_000527.5

p.S157C

c.469A>T

1 paper

NM_000527.5

p.S157fs

c.469_470fs

6 papers

NM_000527.5

p.C155*

c.465C>A

2 papers

NM_000527.5

p.C155_N156insFs

c.465_466insA