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

4 papers

NM_000527.5

p.S306*

c.917C>A

Surrounding Variants

2 papers

NM_000527.5

p.S306insFs

c.917_918insA

2 papers

NM_000527.5

p.S306insFs

c.917_918insG

4 papers

NM_000527.5

p.S306*

c.917C>G

27 papers

NM_000527.5

p.S306L

c.917C>T

2 papers

NM_000527.5

p.S306P

c.916T>C

1 paper

NM_000527.5

p.S306insFs

c.917dupC

1 paper

NM_000527.5

p.S306fs

c.916_917fs

9 papers

NM_000527.5

p.D307N

c.919G>A

3 papers

NM_000527.5

p.W305*

c.915G>A

4 papers

NM_000527.5

p.D307H

c.919G>C

2 papers

NM_000527.5

p.W305C

c.915G>C

2 papers

NM_000527.5

p.D307Y

c.919G>T