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.C358fs

c.1072_1073fs

Surrounding Variants

1 paper

NM_000527.5

p.C358S

c.1072T>A

17 papers

NM_000527.5

p.C358R

c.1072T>C

18 papers

NM_000527.5

p.C358Y

c.1073G>A

3 papers

NM_000527.5

p.C358S

c.1073G>C

1 paper

NM_000527.5

p.C358F

c.1073G>T

1 paper

NM_000527.5

p.Q359_P361del0

c.1076_1081del6

1 paper

NM_000527.5

p.E357A

c.1070A>C

2 papers

NM_000527.5

p.E357G

c.1070A>G

5 papers

NM_000527.5

p.Q359*

c.1075C>T

12 papers

NM_000527.5

p.E357K

c.1069G>A

1 paper

NM_000527.5

p.E357Q

c.1069G>C

4 papers

NM_000527.5

p.E357*

c.1069G>T