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

53 papers

NM_000527.5

p.R257W

c.769C>T

Surrounding Variants

4 papers

NM_000527.5

p.D256E

c.768C>A

4 papers

NM_000527.5

p.D256E

c.768C>G

3 papers

NM_000527.5

p.R257Q

c.770G>A

2 papers

NM_000527.5

p.R257L

c.770G>T

2 papers

NM_000527.5

p.D256insFs

c.767_768insC

2 papers

NM_000527.5

p.D256G

c.767A>G

1 paper

NM_000527.5

p.R257_S265del9

c.769_794del27

4 papers

NM_000527.5

p.E258K

c.772G>A

5 papers

NM_000527.5

p.E258*

c.772G>T

8 papers

NM_000527.5

p.E258G

c.773A>G

1 paper

NM_000527.5

p.Y259delFs

c.776_777delAT

10 papers

NM_000527.5

p.C255*

c.765T>A