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

13 papers

NM_000527.5

p.C698Y

c.2093G>A

Surrounding Variants

2 papers

NM_000527.5

p.C698S

c.2093G>C

2 papers

NM_000527.5

p.C698insFs

c.2093_2094insC

9 papers

NM_000527.5

p.C698F

c.2093G>T

1 paper

NM_000527.5

p.P699delFs

c.2096delC

3 papers

NM_000527.5

p.C698W

c.2094C>G

2 papers

NM_000527.5

p.C698S

c.2092T>A

2 papers

NM_000527.5

p.C698R

c.2092T>C

3 papers

NM_000527.5

p.C698G

c.2092T>G

1 paper

NM_000527.5

p.C698insFs

c.2093_2094dupGC

1 paper

NM_000527.5

p.P699fs

c.2095_2096fs

3 papers

NM_000527.5

p.C698delFs

c.2092delT

31 papers

NM_000527.5

p.P699L

c.2096C>T