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.K693Q

c.2077A>C

Surrounding Variants

1 paper

NM_000527.5

p.K693E

c.2077A>G

1 paper

NM_000527.5

p.K693delFs

c.2077_2078delAA

3 papers

NM_000527.5

p.P692R

c.2075C>G

1 paper

NM_000527.5

p.P692L

c.2075C>T

1 paper

NM_000527.5

p.K693K

c.2079G>A

2 papers

NM_000527.5

p.K693_F694insFs

c.2079_2080insT

1 paper

NM_000527.5

p.F694L

c.2080T>C

2 papers

NM_000527.5

p.F694V

c.2080T>G

1 paper

NM_000527.5

p.P692insFs

c.2076dupC

1 paper

NM_000527.5

p.F694S

c.2081T>C

5 papers

NM_000527.5

p.S691*

c.2072C>A

1 paper

NM_000527.5

p.S691W

c.2072C>G