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

3 papers

NM_000527.5

p.L729fs

c.2185_2186fs

Surrounding Variants

1 paper

NM_000527.5

p.L729L

c.2185C>T

1 paper

NM_000527.5

p.L729P

c.2186T>C

4 papers

NM_000527.5

p.L729_S733delFs

c.2187_2197del11

2 papers

NM_000527.5

p.V731_A735insFs

c.2191_2203dup13

2 papers

NM_000527.5

p.K730fs

c.2188_2189fs

1 paper

NM_000527.5

p.R728G

c.2182A>G

2 papers

NM_000527.5

p.K730fs

c.2188_2189fs

2 papers

NM_000527.5

p.R728delFs

c.2184delG

1 paper

NM_000527.5

p.K730T

c.2189A>C

9 papers

NM_000527.5

p.V731delFs

c.2191delG

1 paper

NM_000527.5

p.K730N

c.2190G>T

1 paper

NM_000527.5

p.V727A

c.2180T>C