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

7 papers

NM_000527.5

p.Y42*

c.126C>A

Surrounding Variants

5 papers

NM_000527.5

p.Y42*

c.126C>G

2 papers

NM_000527.5

p.K43_W44insCTG

c.127_131ins9

1 paper

NM_000527.5

p.Y42S

c.125A>C

1 paper

NM_000527.5

p.K43Q

c.127A>C

3 papers

NM_000527.5

p.Y42C

c.125A>G

2 papers

NM_000527.5

p.K43E

c.127A>G

2 papers

NM_000527.5

p.K43*

c.127A>T

1 paper

NM_000527.5

p.Y42F

c.125A>T

1 paper

NM_000527.5

p.K43T

c.128A>C

2 papers

NM_000527.5

p.K43R

c.128A>G

1 paper

NM_000527.5

p.K43M

c.128A>T

1 paper

NM_000527.5

p.Y42N

c.124T>A