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

4 papers

NM_000527.5

p.F619insFs

c.1856_1857insA

Surrounding Variants

4 papers

NM_000527.5

p.F619S

c.1856T>C

3 papers

NM_000527.5

p.F619C

c.1856T>G

12 papers

NM_000527.5

p.F619L

c.1857T>A

3 papers

NM_000527.5

p.F619I

c.1855T>A

15 papers

NM_000527.5

p.F619L

c.1855T>C

12 papers

NM_000527.5

p.F619L

c.1857T>G

3 papers

NM_000527.5

p.W620R

c.1858T>A

4 papers

NM_000527.5

p.W620R

c.1858T>C

4 papers

NM_000527.5

p.W620*

c.1859G>A

8 papers

NM_000527.5

p.W620S

c.1859G>C

3 papers

NM_000527.5

p.V618A

c.1853T>C

6 papers

NM_000527.5

p.V618G

c.1853T>G