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.G395R

c.1183G>C

Surrounding Variants

2 papers

NM_003383.5

p.G395R

c.1183G>A

1 paper

NM_003383.5

p.Y378H

c.1132T>C

1 paper

NM_003383.5

p.N364N

c.1092T>C

1 paper

NM_003383.5

p.D396Splc

c.1187-9C>T

1 paper

NM_003383.5

p.D396Splc

c.1187-5C>T

1 paper

NM_003383.5

p.D396Splc

c.1187-3C>T

1 paper

NM_003383.5

p.Q408E

c.1222C>G

3 papers

NM_003383.5

p.Y417_C419delFs

c.1249_1255del7

1 paper

NM_003383.5

p.Y417fs

c.1249_1250fs

2 papers

NM_003383.5

p.Y417fs

c.1249_1250fs

1 paper

NM_003383.5

p.Y417*

c.1251C>A

1 paper

NM_003383.5

p.Y417*

c.1251C>G