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.M412fs

c.1234_1235fs

Surrounding Variants

1 paper

NM_000527.5

p.M412L

c.1234A>C

3 papers

NM_000527.5

p.M412V

c.1234A>G

2 papers

NM_000527.5

p.M412L

c.1234A>T

1 paper

NM_000527.5

p.K411K

c.1233G>A

6 papers

NM_000527.5

p.M412T

c.1235T>C

1 paper

NM_000527.5

p.K411R

c.1232A>G

1 paper

NM_000527.5

p.K411delFs

c.1233delG

4 papers

NM_000527.5

p.K411E

c.1231A>G

1 paper

NM_000527.5

p.T413A

c.1237A>G

8 papers

NM_000527.5

p.T413K

c.1238C>A

1 paper

NM_000527.5

p.T413insFs

c.1238_1239insA

12 papers

NM_000527.5

p.T413R

c.1238C>G