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

10 papers

NM_000527.5

p.S123P

c.367T>C

Surrounding Variants

7 papers

NM_000527.5

p.S123T

c.367T>A

1 paper

NM_000527.5

p.S123fs

c.367_368fs

1 paper

NM_000527.5

p.S123Y

c.368C>A

3 papers

NM_000527.5

p.I122M

c.366C>G

1 paper

NM_000527.5

p.S123C

c.368C>G

2 papers

NM_000527.5

p.I122T

c.365T>C

4 papers

NM_000527.5

p.I122L

c.364A>C

2 papers

NM_000527.5

p.I122V

c.364A>G

7 papers

NM_000527.5

p.I122F

c.364A>T

3 papers

NM_000527.5

p.S123_R124delFs

c.369_370delTC

2 papers

NM_000527.5

p.I122delins

c.364_366delinsCCG

2 papers

NM_000527.5

p.I122delins

c.364_366delinsCTG