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.E113G

c.338A>G

Surrounding Variants

3 papers

NM_000527.5

p.E113insFs

c.338_339insG

1 paper

NM_000527.5

p.E113V

c.338A>T

4 papers

NM_000527.5

p.F114_R115delFs

c.340_344del5

15 papers

NM_000527.5

p.E113K

c.337G>A

2 papers

NM_000527.5

p.E113D

c.339G>C

1 paper

NM_000527.5

p.E113Q

c.337G>C

5 papers

NM_000527.5

p.E113fs

c.337_338fs

19 papers

NM_000527.5

p.E113*

c.337G>T

2 papers

NM_000527.5

p.E113D

c.339G>T

1 paper

NM_000527.5

p.E113delFs

c.338delA

2 papers

NM_000527.5

p.E113fs

c.337_338fs

1 paper

NM_000527.5

p.E113_D118delFs

c.338_353del16