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

5 papers

NM_000527.5

p.I764T

c.2291T>C

Surrounding Variants

9 papers

NM_000527.5

p.I764delFs

c.2292delA

1 paper

NM_000527.5

p.I764V

c.2290A>G

1 paper

NM_000527.5

p.I764M

c.2292A>G

3 papers

NM_000527.5

p.I764fs

c.2290_2291fs

6 papers

NM_000527.5

p.E763D

c.2289G>C

1 paper

NM_000527.5

p.V765L

c.2293G>C

1 paper

NM_000527.5

p.I764insFs

c.2291_2292dupTA

2 papers

NM_000527.5

p.V765insFs

c.2293_2294insT

7 papers

NM_000527.5

p.E763D

c.2289G>T

1 paper

NM_000527.5

p.V765L

c.2293G>T

1 paper

NM_000527.5

p.E763G

c.2288A>G

1 paper

NM_000527.5

p.V765A

c.2294T>C