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.M623L

c.1867A>C

Surrounding Variants

1 paper

NM_003383.5

p.M623L

c.1867A>T

1 paper

NM_003383.5

p.S625A

c.1873T>G

4 papers

NM_003383.5

p.R634H

c.1901G>A

1 paper

NM_003383.5

p.L648F

c.1942C>T

1 paper

NM_003383.5

p.E654G

c.1961A>G

1 paper

NM_003383.5

p.E654_D655Splc

c.1962+1G>C

1 paper

NM_003383.5

p.E654_D655Splc

c.1962+41C>A

1 paper

NM_003383.5

p.R656C

c.1966C>T

1 paper

NM_003383.5

p.V657D

c.1970T>A

1 paper

NM_003383.5

p.W659*

c.1976G>A

1 paper

NM_003383.5

p.W659*

c.1977G>A

1 paper

NM_003383.5

p.I660L

c.1978A>C