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

3 papers

NM_000527.5

p.D616fs

c.1846_1847fs

Surrounding Variants

1 paper

NM_000527.5

p.D616N

c.1846G>A

1 paper

NM_000527.5

p.D616H

c.1846G>C

1 paper

NM_000527.5

p.D616G

c.1847A>G

31 papers

NM_000527.5

p.E615_D616Splc

c.1846-1G>A

1 paper

NM_000527.5

p.E615_D616Splc

c.1846-1G>C

3 papers

NM_000527.5

p.E615_D616Splc

c.1846-2A>C

1 paper

NM_000527.5

p.E615_D616Splc

c.1846-2A>G

3 papers

NM_000527.5

p.K617delFs

c.1849delA

3 papers

NM_000527.5

p.K617E

c.1849A>G

2 papers

NM_000527.5

p.E615_D616Splc

c.1846-3T>G

4 papers

NM_000527.5

p.K617_T621del0

c.1851_1862del12

1 paper

NM_000527.5

p.V618fs

c.1852_1853fs