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.C68_K69insG

c.202_206ins3

Surrounding Variants

11 papers

NM_000527.5

p.C68R

c.202T>C

3 papers

NM_000527.5

p.C68G

c.202T>G

1 paper

NM_000527.5

p.T67T

c.201C>T

1 paper

NM_000527.5

p.C68_K69del2

c.202_206del6

8 papers

NM_000527.5

p.C68Y

c.203G>A

2 papers

NM_000527.5

p.C68F

c.203G>T

3 papers

NM_000527.5

p.C68*

c.204C>A

10 papers

NM_000527.5

p.C68W

c.204C>G

5 papers

NM_000527.5

p.T67I

c.200C>T

1 paper

NM_000527.5

p.K69Q

c.205A>C

2 papers

NM_000527.5

p.K69E

c.205A>G

1 paper

NM_000527.5

p.T67A

c.199A>G