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.N657K

c.1971C>A

Surrounding Variants

1 paper

NM_000527.5

p.N657K

c.1971C>G

1 paper

NM_000527.5

p.N657S

c.1970A>G

1 paper

NM_000527.5

p.N657D

c.1969A>G

6 papers

NM_000527.5

p.L658P

c.1973T>C

2 papers

NM_000527.5

p.H656Q

c.1968C>A

1 paper

NM_000527.5

p.L658L

c.1974C>A

2 papers

NM_000527.5

p.H656Q

c.1968C>G

1 paper

NM_000527.5

p.N657_P661del5

c.1969_1982del15

5 papers

NM_000527.5

p.T659P

c.1975A>C

1 paper

NM_000527.5

p.H656R

c.1967A>G

1 paper

NM_000527.5

p.T659A

c.1975A>G

1 paper

NM_000527.5

p.Q660delFs

c.1978delC