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

16 papers

NM_000527.5

p.H656N

c.1966C>A

Surrounding Variants

1 paper

NM_000527.5

p.H656fs

c.1966_1967fs

1 paper

NM_000527.5

p.H656R

c.1967A>G

7 papers

NM_000527.5

p.F655L

c.1965C>A

7 papers

NM_000527.5

p.F655L

c.1965C>G

1 paper

NM_000527.5

p.F655_H656Fs

c.1965_1966delinsGFs

3 papers

NM_000527.5

p.H656_P661del6

c.1966_1982del18

2 papers

NM_000527.5

p.H656Q

c.1968C>A

2 papers

NM_000527.5

p.H656Q

c.1968C>G

1 paper

NM_000527.5

p.N657_P661del5

c.1969_1982del15

2 papers

NM_000527.5

p.F655S

c.1964T>C

1 paper

NM_000527.5

p.F655delFs

c.1965delC

1 paper

NM_000527.5

p.N657D

c.1969A>G