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.W572fs

c.1714_1715fs

Surrounding Variants

3 papers

NM_003383.5

p.Y571delFs

c.1713delC

1 paper

NM_003383.5

p.Y571fs

c.1711_1712fs

2 papers

NM_003383.5

p.Y571insFs

c.1711dupT

2 papers

NM_003383.5

p.W575*

c.1724G>A

2 papers

NM_003383.5

p.W575*

c.1725G>A

1 paper

NM_003383.5

p.E577K

c.1729G>A

1 paper

NM_003383.5

p.E582Q

c.1744G>C

1 paper

NM_003383.5

p.G585V

c.1754G>T

1 paper

NM_003383.5

p.V595G

c.1784T>G

1 paper

NM_003383.5

p.A597V

c.1790C>T

1 paper

NM_003383.5

p.D608Splc

c.1822+2T>C

1 paper

NM_003383.5

p.M623L

c.1867A>C