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.T557S

c.1669A>T

Surrounding Variants

1 paper

NM_000527.5

p.T557A

c.1669A>G

1 paper

NM_000527.5

p.T557fs

c.1669_1670fs

2 papers

NM_000527.5

p.T557S

c.1670C>G

1 paper

NM_000527.5

p.T557_E558delFs

c.1671_1672delTG

1 paper

NM_000527.5

p.V556A

c.1667T>C

2 papers

NM_000527.5

p.E558K

c.1672G>A

6 papers

NM_000527.5

p.E558*

c.1672G>T

1 paper

NM_000527.5

p.V556_N559delFs

c.1667_1676del10

6 papers

NM_000527.5

p.L555P

c.1664T>C

1 paper

NM_000527.5

p.L555R

c.1664T>G

1 paper

NM_000527.5

p.L555_E558delins

c.1664_1674delinsCC

1 paper

NM_000527.5

p.L555insFs

c.1663_1664insT