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.F32Y

c.95T>A

Surrounding Variants

5 papers

NM_000527.5

p.F32S

c.95T>C

5 papers

NM_000527.5

p.F32C

c.95T>G

3 papers

NM_000527.5

p.F32L

c.96C>A

3 papers

NM_000527.5

p.F32L

c.96C>G

3 papers

NM_000527.5

p.F32F

c.96C>T

1 paper

NM_000527.5

p.F32I

c.94T>A

3 papers

NM_000527.5

p.F32L

c.94T>C

3 papers

NM_000527.5

p.F32V

c.94T>G

1 paper

NM_000527.5

p.F32fs

c.94_95fs

1 paper

NM_000527.5

p.F32fs

c.94_95fs

2 papers

NM_000527.5

p.Q33K

c.97C>A

1 paper

NM_000527.5

p.Q33E

c.97C>G