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

14 papers

NM_000527.5

p.W483R

c.1447T>A

Surrounding Variants

16 papers

NM_000527.5

p.W483R

c.1447T>C

1 paper

NM_000527.5

p.W483G

c.1447T>G

1 paper

NM_000527.5

p.W483_S493Fs

c.1447_1479delinsAGAGACAFs

1 paper

NM_000527.5

p.D482E

c.1446C>A

2 papers

NM_000527.5

p.D482E

c.1446C>G

49 papers

NM_000527.5

p.W483*

c.1448G>A

1 paper

NM_000527.5

p.W483L

c.1448G>T

1 paper

NM_000527.5

p.D482A

c.1445A>C

4 papers

NM_000527.5

p.D482G

c.1445A>G

2 papers

NM_000527.5

p.D482_W483delins

c.1446_1449delinsG

42 papers

NM_000527.5

p.W483*

c.1449G>A

8 papers

NM_000527.5

p.W483C

c.1449G>C