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.V618A

c.1853T>C

Surrounding Variants

6 papers

NM_000527.5

p.V618G

c.1853T>G

1 paper

NM_000527.5

p.V618fs

c.1852_1853fs

3 papers

NM_000527.5

p.F619I

c.1855T>A

15 papers

NM_000527.5

p.F619L

c.1855T>C

4 papers

NM_000527.5

p.K617_T621del0

c.1851_1862del12

4 papers

NM_000527.5

p.F619S

c.1856T>C

3 papers

NM_000527.5

p.F619C

c.1856T>G

4 papers

NM_000527.5

p.F619insFs

c.1856_1857insA

3 papers

NM_000527.5

p.K617E

c.1849A>G

12 papers

NM_000527.5

p.F619L

c.1857T>A

12 papers

NM_000527.5

p.F619L

c.1857T>G

3 papers

NM_000527.5

p.K617delFs

c.1849delA