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.C239S

c.715T>A

Surrounding Variants

1 paper

NM_003383.5

p.C239S

c.716G>C

1 paper

NM_003383.5

p.P240L

c.719C>T

1 paper

NM_003383.5

p.I235M

c.705A>G

1 paper

NM_003383.5

p.I244M

c.732C>G

1 paper

NM_003383.5

p.Q245*

c.733C>T

2 papers

NM_003383.5

p.C246C

c.738C>T

2 papers

NM_003383.5

p.R231H

c.692G>A

1 paper

NM_003383.5

p.S225F

c.674C>T

1 paper

NM_003383.5

p.K254R

c.761A>G

1 paper

NM_003383.5

p.W256*

c.767G>A

1 paper

NM_003383.5

p.W256*

c.768G>A

7 papers

NM_003383.5

p.R257*

c.769C>T