Varaico: Literature-Extracted Genetic Variants

LDLR

2,667 papers

RefSeq Summary

The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. The encoded protein is normally bound at the ce...

Pfam Domains

Ldl_recept_aaa 25–63UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 66–104UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 107–143UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 146–184UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 195–231UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 234–270UCSCLow-density lipoprotein receptor domain class A

Gene Aliases

HGNC Name

low density lipoprotein receptor

HGNC Alias Symbol

LDLCQ2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000527.5

p.R351G

c.1051A>G

Surrounding Variants

1 paper

NM_000527.5

p.R351_C352ins4

c.1051_1055ins12

1 paper

NM_000527.5

p.R351*

c.1051A>T

1 paper

NM_000527.5

p.R351I

c.1052G>T

1 paper

NM_000527.5

p.R351R

c.1053A>G

4 papers

NM_000527.5

p.R350Q

c.1049G>A

9 papers

NM_000527.5

p.R350P

c.1049G>C

1 paper

NM_000527.5

p.R350R

c.1048C>A

1 paper

NM_000527.5

p.R350insFs

c.1048_1049ins5

66 papers

NM_000527.5

p.R350*

c.1048C>T

14 papers

NM_000527.5

p.C352S

c.1054T>A

18 papers

NM_000527.5

p.C352R

c.1054T>C

1 paper

NM_000527.5

p.C352fs

c.1054_1055fs