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.V295delFs

c.883delG

Surrounding Variants

1 paper

NM_000527.5

p.V295_N297del3

c.883_890del9

1 paper

NM_000527.5

p.K294R

c.881A>G

1 paper

NM_000527.5

p.V295I

c.883G>A

2 papers

NM_000527.5

p.V295_C296insT

c.883_887ins3

2 papers

NM_000527.5

p.V295F

c.883G>T

6 papers

NM_000527.5

p.V295delFs

c.884delT

1 paper

NM_000527.5

p.V295fs

c.883_884fs

1 paper

NM_000527.5

p.K294fs

c.880_881fs

4 papers

NM_000527.5

p.K294E

c.880A>G

2 papers

NM_000527.5

p.K294*

c.880A>T

2 papers

NM_000527.5

p.K294fs

c.880_881fs

1 paper

NM_000527.5

p.V295A

c.884T>C