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.G91G

c.273C>T

Surrounding Variants

1 paper

NM_000527.5

p.G91G

c.273C>A

3 papers

NM_000527.5

p.Q92K

c.274C>A

21 papers

NM_000527.5

p.Q92E

c.274C>G

4 papers

NM_000527.5

p.Q92*

c.274C>T

3 papers

NM_000527.5

p.G91D

c.272G>A

1 paper

NM_000527.5

p.G91V

c.272G>T

1 paper

NM_000527.5

p.Q92delFs

c.274delC

2 papers

NM_000527.5

p.Q92P

c.275A>C

1 paper

NM_000527.5

p.Q92R

c.275A>G

1 paper

NM_000527.5

p.Q92L

c.275A>T

3 papers

NM_000527.5

p.G91S

c.271G>A

1 paper

NM_000527.5

p.G91R

c.271G>C