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.N30_E31insFs

c.89_92dup4

Surrounding Variants

2 papers

NM_000527.5

p.R29_N30insFs

c.87_88insC

1 paper

NM_000527.5

p.R29S

c.87A>C

1 paper

NM_000527.5

p.R29S

c.87A>T

1 paper

NM_000527.5

p.N30H

c.88A>C

2 papers

NM_000527.5

p.N30D

c.88A>G

1 paper

NM_000527.5

p.N30Y

c.88A>T

2 papers

NM_000527.5

p.R29K

c.86G>A

3 papers

NM_000527.5

p.R29T

c.86G>C

1 paper

NM_000527.5

p.R29Fs

c.86delinsCCFs

3 papers

NM_000527.5

p.R29_N30insFs

c.87_88insA

1 paper

NM_000527.5

p.R29I

c.86G>T

1 paper

NM_000527.5

p.N30T

c.89A>C