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.G573delFs

c.1718delG

Surrounding Variants

1 paper

NM_000527.5

p.S572R

c.1716T>A

1 paper

NM_000527.5

p.S572R

c.1716T>G

4 papers

NM_000527.5

p.S572N

c.1715G>A

1 paper

NM_000527.5

p.S572_G573Fs

c.1715_1719delinsAFs

1 paper

NM_000527.5

p.S572fs

c.1714_1715fs

1 paper

NM_000527.5

p.S572R

c.1714A>C

1 paper

NM_000527.5

p.S572G

c.1714A>G

1 paper

NM_000527.5

p.S572fs

c.1714_1715fs

1 paper

NM_000527.5

p.S572_G573delFs

c.1715_1718del4

1 paper

NM_000527.5

p.S572delFs

c.1714_1715delAG

5 papers

NM_000527.5

p.R574S

c.1720C>A

24 papers

NM_000527.5

p.R574C

c.1720C>T