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

1 paper

NM_000527.5

p.R351R

c.1053A>G

Surrounding Variants

1 paper

NM_000527.5

p.R351I

c.1052G>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

1 paper

NM_000527.5

p.R351_C352ins4

c.1051_1055ins12

2 papers

NM_000527.5

p.R351G

c.1051A>G

1 paper

NM_000527.5

p.R351*

c.1051A>T

23 papers

NM_000527.5

p.C352Y

c.1055G>A

13 papers

NM_000527.5

p.C352S

c.1055G>C

4 papers

NM_000527.5

p.C352F

c.1055G>T

7 papers

NM_000527.5

p.C352*

c.1056C>A

11 papers

NM_000527.5

p.C352W

c.1056C>G