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

10 papers

NM_000527.5

p.R410S

c.1230G>C

Surrounding Variants

1 paper

NM_000527.5

p.R410R

c.1230G>A

9 papers

NM_000527.5

p.R410S

c.1230G>T

4 papers

NM_000527.5

p.K411E

c.1231A>G

1 paper

NM_000527.5

p.R410K

c.1229G>A

2 papers

NM_000527.5

p.R410insFs

c.1228_1229insG

5 papers

NM_000527.5

p.R410G

c.1228A>G

1 paper

NM_000527.5

p.K411R

c.1232A>G

1 paper

NM_000527.5

p.K411delFs

c.1233delG

1 paper

NM_000527.5

p.V409V

c.1227C>T

1 paper

NM_000527.5

p.K411K

c.1233G>A

1 paper

NM_000527.5

p.M412fs

c.1234_1235fs

1 paper

NM_000527.5

p.M412L

c.1234A>C