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.E714G

c.2141A>G

Surrounding Variants

17 papers

NM_000527.5

p.E714Splc

c.2140+1G>A

1 paper

NM_000527.5

p.E714Splc

c.2140+1G>C

5 papers

NM_000527.5

p.E714Splc

c.2140+1G>T

3 papers

NM_000527.5

p.E714K

c.2140G>A

5 papers

NM_000527.5

p.E714Q

c.2140G>C

4 papers

NM_000527.5

p.E714*

c.2140G>T

1 paper

NM_000527.5

p.E714Splc

c.2140+2T>A

2 papers

NM_000527.5

p.E714Splc

c.2140+2T>C

3 papers

NM_000527.5

p.T713T

c.2139A>G

1 paper

NM_000527.5

p.T713T

c.2139A>T

1 paper

NM_000527.5

p.T713I

c.2138C>T

2 papers

NM_000527.5

p.T713fs

c.2137_2138fs