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

1–12 of 192 variants

12 papers

NM_003383.5

p.C706F

c.2117G>T

9 papers

NM_003383.5

p.R448*

c.1342C>T

9 papers

NM_003383.5

p.D521H

c.1561G>C

8 papers

NM_003383.5

p.D487Y

c.1459G>T

7 papers

NM_003383.5

p.R257*

c.769C>T

6 papers

NM_003383.5

p.N81S

c.242A>G

6 papers

NM_003383.5

p.I780delFs

c.2339delT

5 papers

NM_003383.5

p.R279*

c.835C>T

5 papers

NM_003383.5

p.R301Q

c.902G>A

4 papers

NM_003383.5

p.R634H

c.1901G>A

3 papers

NM_003383.5

p.Y417_C419delFs

c.1249_1255del7

3 papers

NM_003383.5

p.Y571delFs

c.1713delC