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.N665_C667insFs

c.1995_2001dup7

Surrounding Variants

1 paper

NM_000527.5

p.N665S

c.1994A>G

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

1 paper

NM_000527.5

p.N665K

c.1995C>A

1 paper

NM_000527.5

p.N665K

c.1995C>G

2 papers

NM_000527.5

p.V664_N665insFs

c.1992_1993insA

1 paper

NM_000527.5

p.N665_T670del6

c.1993_2009del18

1 paper

NM_000527.5

p.W666R

c.1996T>A

1 paper

NM_000527.5

p.W666R

c.1996T>C

1 paper

NM_000527.5

p.W666fs

c.1996_1997fs

2 papers

NM_000527.5

p.W666_C667insA

c.1996_2000ins3