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

1–12 of 6142 variants

157 papers

NM_000527.5

p.G592E

c.1775G>A

128 papers

NM_000527.5

p.P685L

c.2054C>T

117 papers

NM_000527.5

p.P105Splc

c.313+1G>A

103 papers

NM_000527.5

p.V429M

c.1285G>A

94 papers

NM_000527.5

p.H583Y

c.1747C>T

87 papers

NM_000527.5

p.C681*

c.2043C>A

86 papers

NM_000527.5

p.G549D

c.1646G>A

83 papers

NM_000527.5

p.R416W

c.1246C>T

82 papers

NM_000527.5

p.E228K

c.682G>A

80 papers

NM_000527.5

p.S177L

c.530C>T

80 papers

NM_000527.5

p.D221G

c.662A>G

79 papers

NM_000527.5

p.V523M

c.1567G>A