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.V664L

c.1990G>T

Surrounding Variants

1 paper

NM_000527.5

p.V664A

c.1991T>C

6 papers

NM_000527.5

p.G663E

c.1988G>A

4 papers

NM_000527.5

p.G663A

c.1988G>C

2 papers

NM_000527.5

p.V664_N665insFs

c.1992_1993insA

2 papers

NM_000527.5

p.G663fs

c.1987_1988fs

1 paper

NM_000527.5

p.N665_T670del6

c.1993_2009del18

1 paper

NM_000527.5

p.N665_W666ins6

c.1993_1997ins18

1 paper

NM_000527.5

p.N665D

c.1993A>G

3 papers

NM_000527.5

p.N665_T670delFs

c.1994_2010del17

3 papers

NM_000527.5

p.G663Splc

c.1988-1G>A

1 paper

NM_000527.5

p.G663Splc

c.1988-1G>C

1 paper

NM_000527.5

p.N665_C667insFs

c.1995_2001dup7