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.D76H

c.226G>C

Surrounding Variants

1 paper

NM_003383.5

p.A73V

c.218C>T

6 papers

NM_003383.5

p.N81S

c.242A>G

1 paper

NM_003383.5

p.Q83delFs

c.249delG

1 paper

NM_003383.5

p.R88R

c.264A>G

1 paper

NM_003383.5

p.D94A

c.281A>C

1 paper

NM_003383.5

p.E106Q

c.316G>C

1 paper

NM_003383.5

p.Q107R

c.320A>G

1 paper

NM_003383.5

p.C108*

c.324C>A

1 paper

NM_003383.5

p.R114C

c.340C>T

1 paper

NM_003383.5

p.A122T

c.364G>A

1 paper

NM_003383.5

p.A122P

c.364G>C

1 paper

NM_003383.5

p.H123Y

c.367C>T