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.Q455R

c.1364A>G

Surrounding Variants

1 paper

NM_000527.5

p.Q455E

c.1363C>G

2 papers

NM_000527.5

p.Q455*

c.1363C>T

2 papers

NM_000527.5

p.Q455fs

c.1363_1364fs

1 paper

NM_000527.5

p.L456_A459delFs

c.1367_1376del10

1 paper

NM_000527.5

p.L456fs

c.1366_1367fs

2 papers

NM_000527.5

p.L456F

c.1366C>T

1 paper

NM_000527.5

p.L456fs

c.1366_1367fs

14 papers

NM_000527.5

p.T454N

c.1361C>A

1 paper

NM_000527.5

p.T454I

c.1361C>T

3 papers

NM_000527.5

p.L456H

c.1367T>A

5 papers

NM_000527.5

p.L456P

c.1367T>C

3 papers

NM_000527.5

p.D457_Y465del9

c.1369_1394del27