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.H211_S212del1

c.632_634delACT

Surrounding Variants

4 papers

NM_000527.5

p.H211D

c.631C>G

9 papers

NM_000527.5

p.H211Y

c.631C>T

1 paper

NM_000527.5

p.H211R

c.632A>G

5 papers

NM_000527.5

p.H211L

c.632A>T

3 papers

NM_000527.5

p.I210N

c.629T>A

1 paper

NM_000527.5

p.I210T

c.629T>C

1 paper

NM_000527.5

p.H211del1

c.631_632delCAC

1 paper

NM_000527.5

p.I210V

c.628A>G

1 paper

NM_000527.5

p.I210F

c.628A>T

1 paper

NM_000527.5

p.S212P

c.634T>C

1 paper

NM_000527.5

p.S212delFs

c.635delC

1 paper

NM_000527.5

p.C209*

c.627C>A