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.P274R

c.821C>G

Surrounding Variants

1 paper

NM_003383.5

p.T277P

c.829A>C

5 papers

NM_003383.5

p.R279*

c.835C>T

1 paper

NM_003383.5

p.R295W

c.883A>T

2 papers

NM_003383.5

p.R301*

c.901C>T

5 papers

NM_003383.5

p.R301Q

c.902G>A

1 paper

NM_003383.5

p.D305N

c.913G>A

1 paper

NM_003383.5

p.P274R

c.821C>G

2 papers

NM_003383.5

p.P274Splc

c.820+1G>A

1 paper

NM_003383.5

p.P274S

c.820C>T

1 paper

NM_003383.5

p.C273W

c.819T>G

1 paper

NM_003383.5

p.S268N

c.803G>A

1 paper

NM_003383.5

p.G260E

c.779G>A