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.Q384R

c.1151A>G

Surrounding Variants

10 papers

NM_000527.5

p.Q384P

c.1151A>C

2 papers

NM_000527.5

p.Q384L

c.1151A>T

2 papers

NM_000527.5

p.Q384_L385insG

c.1150_1154ins3

17 papers

NM_000527.5

p.Q384*

c.1150C>T

1 paper

NM_000527.5

p.F383L

c.1149C>A

2 papers

NM_000527.5

p.L385V

c.1153C>G

1 paper

NM_000527.5

p.F383L

c.1149C>G

3 papers

NM_000527.5

p.L385P

c.1154T>C

2 papers

NM_000527.5

p.F383S

c.1148T>C

7 papers

NM_000527.5

p.L385R

c.1154T>G

3 papers

NM_000527.5

p.Q384_P387del0

c.1151_1159del9

1 paper

NM_000527.5

p.F383L

c.1147T>C