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.I796S

c.2387T>G

Surrounding Variants

1 paper

NM_000527.5

p.I796T

c.2387T>C

1 paper

NM_000527.5

p.I796fs

c.2386_2387fs

2 papers

NM_000527.5

p.I796V

c.2386A>G

1 paper

NM_000527.5

p.I796fs

c.2386_2387fs

66 papers

NM_000527.5

p.V797M

c.2389G>A

17 papers

NM_000527.5

p.V797L

c.2389G>C

22 papers

NM_000527.5

p.V797L

c.2389G>T

6 papers

NM_000527.5

p.P795H

c.2384C>A

2 papers

NM_000527.5

p.P795R

c.2384C>G

1 paper

NM_000527.5

p.P795L

c.2384C>T

3 papers

NM_000527.5

p.V797Splc

c.2389+1G>A

2 papers

NM_000527.5

p.V797Splc

c.2389+1G>C