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

2 papers

NM_000527.5

p.T21_A22ins1

c.63_64insCTG

Surrounding Variants

6 papers

NM_000527.5

p.A22delFs

c.64delG

1 paper

NM_000527.5

p.T21N

c.62C>A

3 papers

NM_000527.5

p.T21S

c.62C>G

2 papers

NM_000527.5

p.T21I

c.62C>T

1 paper

NM_000527.5

p.A22T

c.64G>A

1 paper

NM_000527.5

p.A22P

c.64G>C

3 papers

NM_000527.5

p.A22fs

c.64_65fs

2 papers

NM_000527.5

p.A22S

c.64G>T

1 paper

NM_000527.5

p.T21ins1

c.61_62insCTG

1 paper

NM_000527.5

p.T21P

c.61A>C

5 papers

NM_000527.5

p.T21A

c.61A>G

1 paper

NM_000527.5

p.T21S

c.61A>T