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

1 paper

NM_000527.5

p.Q448K

c.1342C>A

Surrounding Variants

19 papers

NM_000527.5

p.Q448*

c.1342C>T

1 paper

NM_000527.5

p.Q448delFs

c.1343delA

1 paper

NM_000527.5

p.Q448R

c.1343A>G

1 paper

NM_000527.5

p.Q448insFs

c.1342_1343ins4

12 papers

NM_000527.5

p.S447C

c.1340C>G

2 papers

NM_000527.5

p.R449G

c.1345A>G

7 papers

NM_000527.5

p.S447P

c.1339T>C

2 papers

NM_000527.5

p.S447_Q448insC

c.1339_1343ins3

1 paper

NM_000527.5

p.S447fs

c.1339_1340fs

1 paper

NM_000527.5

p.R449S

c.1347A>T

3 papers

NM_000527.5

p.L446P

c.1337T>C

1 paper

NM_000527.5

p.L446delFs

c.1338delG