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.W822*

c.2466G>A

Surrounding Variants

1 paper

NM_003383.5

p.W822*

c.2465G>A

1 paper

NM_003383.5

p.R820Q

c.2459G>A

1 paper

NM_003383.5

p.D844G

c.2531A>G

6 papers

NM_003383.5

p.I780delFs

c.2339delT

1 paper

NM_003383.5

p.I780fs

c.2338_2339fs

2 papers

NM_003383.5

p.Q750*

c.2248C>T

2 papers

NM_003383.5

p.R747L

c.2240G>T

1 paper

NM_003383.5

p.R747*

c.2239C>T

1 paper

NM_003383.5

p.N741S

c.2222A>G

1 paper

NM_003383.5

p.C736Y

c.2207G>A

1 paper

NM_003383.5

p.H728delFs

c.2184delC

1 paper

NM_003383.5

p.C719Y

c.2156G>A