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.H285R

c.854A>G

Surrounding Variants

1 paper

NM_000527.5

p.H285N

c.853C>A

1 paper

NM_000527.5

p.H285Q

c.855C>A

1 paper

NM_000527.5

p.H285D

c.853C>G

1 paper

NM_000527.5

p.H285Q

c.855C>G

4 papers

NM_000527.5

p.H285Y

c.853C>T

40 papers

NM_000527.5

p.S286R

c.856A>C

1 paper

NM_000527.5

p.S286G

c.856A>G

1 paper

NM_000527.5

p.C284Y

c.851G>A

1 paper

NM_000527.5

p.S286N

c.857G>A

6 papers

NM_000527.5

p.C284S

c.851G>C

1 paper

NM_000527.5

p.G287_D301del15

c.859_902del45

63 papers

NM_000527.5

p.S286R

c.858C>A