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.E350insFs

c.1048_1049ins5

Surrounding Variants

1 paper

NM_003383.5

p.P351S

c.1051C>T

1 paper

NM_003383.5

p.W347C

c.1041G>C

1 paper

NM_003383.5

p.C344insFs

c.1032dupC

1 paper

NM_003383.5

p.C338S

c.1012T>A

1 paper

NM_003383.5

p.V337insFs

c.1010dupT

1 paper

NM_003383.5

p.S328T

c.983G>C

1 paper

NM_003383.5

p.D305N

c.913G>A

5 papers

NM_003383.5

p.R301Q

c.902G>A

2 papers

NM_003383.5

p.R301*

c.901C>T

1 paper

NM_003383.5

p.R295W

c.883A>T

5 papers

NM_003383.5

p.R279*

c.835C>T

1 paper

NM_003383.5

p.T277P

c.829A>C