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.P3_V12del10

c.7_35del30

Surrounding Variants

4 papers

NM_000527.5

p.P3insFs

c.8dupC

1 paper

NM_000527.5

p.P3_W4insFs

c.7_10dup4

4 papers

NM_000527.5

p.P3delFs

c.8delC

1 paper

NM_000527.5

p.P3_K7del5

c.7_20del15

1 paper

NM_000527.5

p.P3T

c.7C>A

1 paper

NM_000527.5

p.P3A

c.7C>G

4 papers

NM_000527.5

p.P3S

c.7C>T

1 paper

NM_000527.5

p.P3_G5delFs

c.9_15del7

7 papers

NM_000527.5

p.G2E

c.5G>A

1 paper

NM_000527.5

p.G2A

c.5G>C

2 papers

NM_000527.5

p.G2insFs

c.5_6insT

1 paper

NM_000527.5

p.G2insFs

c.5_6ins14