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.R556Q

c.1667G>A

Surrounding Variants

1 paper

NM_003383.5

p.S553C

c.1658C>G

2 papers

NM_003383.5

p.S538L

c.1613C>T

1 paper

NM_003383.5

p.W529*

c.1587G>A

1 paper

NM_003383.5

p.W529*

c.1586G>A

9 papers

NM_003383.5

p.D521H

c.1561G>C

1 paper

NM_003383.5

p.D521Y

c.1561G>T

1 paper

NM_003383.5

p.P515H

c.1544C>A

1 paper

NM_003383.5

p.K507R

c.1520A>G

1 paper

NM_003383.5

p.D487N

c.1459G>A

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