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.L186L

c.556C>T

Surrounding Variants

1 paper

NM_003383.5

p.D187_C188del2

c.559_563del6

1 paper

NM_003383.5

p.G182G

c.546C>A

1 paper

NM_003383.5

p.P190T

c.568C>A

1 paper

NM_003383.5

p.P190S

c.568C>T

1 paper

NM_003383.5

p.S180S

c.540C>T

1 paper

NM_003383.5

p.Q176H

c.528G>T

1 paper

NM_003383.5

p.R169K

c.506G>A

1 paper

NM_003383.5

p.R169insFs

c.506_507ins4

1 paper

NM_003383.5

p.D213A

c.638A>C

1 paper

NM_003383.5

p.D214G

c.641A>G

1 paper

NM_003383.5

p.P156T

c.466C>A

2 papers

NM_003383.5

p.A216V

c.647C>T