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.V12V

c.36C>A

Surrounding Variants

1 paper

NM_000527.5

p.A13_G20del0

c.38_58del21

1 paper

NM_000527.5

p.A13T

c.37G>A

1 paper

NM_000527.5

p.A13P

c.37G>C

2 papers

NM_000527.5

p.A13S

c.37G>T

1 paper

NM_000527.5

p.V12D

c.35T>A

3 papers

NM_000527.5

p.V12A

c.35T>C

1 paper

NM_000527.5

p.V12G

c.35T>G

2 papers

NM_000527.5

p.A13D

c.38C>A

1 paper

NM_000527.5

p.A13G

c.38C>G

2 papers

NM_000527.5

p.A13V

c.38C>T

2 papers

NM_000527.5

p.V12I

c.34G>A

1 paper

NM_000527.5

p.V12L

c.34G>C