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.K7insFs

c.20dupA

Surrounding Variants

1 paper

NM_000527.5

p.W6*

c.18G>A

1 paper

NM_000527.5

p.W6C

c.18G>C

1 paper

NM_000527.5

p.W6C

c.18G>T

1 paper

NM_000527.5

p.K7delFs

c.20_21delAA

2 papers

NM_000527.5

p.K7_L8insC

c.19_23ins3

1 paper

NM_000527.5

p.K7Q

c.19A>C

1 paper

NM_000527.5

p.K7E

c.19A>G

2 papers

NM_000527.5

p.K7*

c.19A>T

1 paper

NM_000527.5

p.K7fs

c.19_20fs

3 papers

NM_000527.5

p.W6*

c.17G>A

1 paper

NM_000527.5

p.W6S

c.17G>C

1 paper

NM_000527.5

p.K7T

c.20A>C