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.M450Fs

c.1349delinsTTFs

Surrounding Variants

2 papers

NM_000527.5

p.M450_I451insA

c.1348_1352ins3

1 paper

NM_000527.5

p.M450V

c.1348A>G

1 paper

NM_000527.5

p.R449S

c.1347A>T

1 paper

NM_000527.5

p.M450T

c.1349T>C

2 papers

NM_000527.5

p.R449G

c.1345A>G

1 paper

NM_000527.5

p.I451V

c.1351A>G

2 papers

NM_000527.5

p.I451F

c.1351A>T

21 papers

NM_000527.5

p.I451T

c.1352T>C

1 paper

NM_000527.5

p.Q448R

c.1343A>G

1 paper

NM_000527.5

p.Q448K

c.1342C>A

19 papers

NM_000527.5

p.Q448*

c.1342C>T

1 paper

NM_000527.5

p.Q448delFs

c.1343delA