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.S110P

c.328T>C

Surrounding Variants

1 paper

NM_000527.5

p.S110T

c.328T>A

2 papers

NM_000527.5

p.S110insFs

c.328_329insC

2 papers

NM_000527.5

p.C109*

c.327C>A

1 paper

NM_000527.5

p.S110F

c.329C>T

19 papers

NM_000527.5

p.C109Y

c.326G>A

5 papers

NM_000527.5

p.C109S

c.326G>C

2 papers

NM_000527.5

p.C109_S110insFs

c.327_328insC

7 papers

NM_000527.5

p.C109F

c.326G>T

4 papers

NM_000527.5

p.Q111K

c.331C>A

6 papers

NM_000527.5

p.C109S

c.325T>A

18 papers

NM_000527.5

p.C109R

c.325T>C

5 papers

NM_000527.5

p.C109G

c.325T>G