Varaico: Literature-Extracted Genetic Variants

VLDLR

201 papers

RefSeq Summary

The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. This gene encodes a lipoprotein receptor that i...

Pfam Domains

Ldl_recept_aaa 31–67UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 70–108UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 111–147UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 111–149UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 150–188UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 196–232UCSCLow-density lipoprotein receptor domain class A

Gene Aliases

HGNC Name

very low density lipoprotein receptor

HGNC Alias Symbols

CARMQ1; CHRMQ1; VLDLRCH

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003383.5

p.D487N

c.1459G>A

Surrounding Variants

8 papers

NM_003383.5

p.D487Y

c.1459G>T

1 paper

NM_003383.5

p.E460*

c.1378G>T

9 papers

NM_003383.5

p.R448*

c.1342C>T

1 paper

NM_003383.5

p.K507R

c.1520A>G

1 paper

NM_003383.5

p.T431A

c.1291A>G

1 paper

NM_003383.5

p.L429P

c.1286T>C

1 paper

NM_003383.5

p.D428H

c.1282G>C

1 paper

NM_003383.5

p.P515H

c.1544C>A

9 papers

NM_003383.5

p.D521H

c.1561G>C

1 paper

NM_003383.5

p.D521Y

c.1561G>T

2 papers

NM_003383.5

p.C419Y

c.1256G>A

1 paper

NM_003383.5

p.Y417*

c.1251C>A