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.G324fs

c.970_971fs

Surrounding Variants

11 papers

NM_000527.5

p.G324S

c.970G>A

2 papers

NM_000527.5

p.G324C

c.970G>T

1 paper

NM_000527.5

p.G324fs

c.970_971fs

5 papers

NM_000527.5

p.G324delFs

c.970delG

1 paper

NM_000527.5

p.G324D

c.971G>A

1 paper

NM_000527.5

p.G324G

c.972C>G

1 paper

NM_000527.5

p.G323delFs

c.969delC

1 paper

NM_000527.5

p.G324_V328del0

c.971_982del12

10 papers

NM_000527.5

p.G323S

c.967G>A

1 paper

NM_000527.5

p.G323_G324ins10

c.967_971ins30

2 papers

NM_000527.5

p.G323C

c.967G>T

4 papers

NM_000527.5

p.C325R

c.973T>C