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

15 papers

NM_000527.5

p.C173delFs

c.518delG

Surrounding Variants

4 papers

NM_000527.5

p.C173S

c.517T>A

18 papers

NM_000527.5

p.C173R

c.517T>C

NM_001195799.2

p.C132R

c.394T>C

3 papers

NM_000527.5

p.C173G

c.517T>G

1 paper

NM_000527.5

p.C173fs

c.517_518fs

11 papers

NM_000527.5

p.D172E

c.516C>A

12 papers

NM_000527.5

p.D172E

c.516C>G

5 papers

NM_000527.5

p.D172D

c.516C>T

5 papers

NM_000527.5

p.C173Y

c.518G>A

4 papers

NM_000527.5

p.C173S

c.518G>C

1 paper

NM_000527.5

p.C173F

c.518G>T

1 paper

NM_000527.5

p.D172A

c.515A>C

6 papers

NM_000527.5

p.D172G

c.515A>G