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

28 papers

NM_000527.5

p.R115H

c.344G>A

Surrounding Variants

2 papers

NM_000527.5

p.R115L

c.344G>T

2 papers

NM_000527.5

p.C116_S123del0

c.347_367del21

2 papers

NM_000527.5

p.R115_C116insFs

c.345_346insA

1 paper

NM_000527.5

p.R115_C116ins4

c.343_347ins12

19 papers

NM_000527.5

p.R115C

c.343C>T

3 papers

NM_000527.5

p.R115R

c.345C>T

2 papers

NM_000527.5

p.C116S

c.346T>A

1 paper

NM_000527.5

p.F114L

c.342T>A

19 papers

NM_000527.5

p.C116R

c.346T>C

1 paper

NM_000527.5

p.F114L

c.342T>G

4 papers

NM_000527.5

p.C116_H117del1

c.347_349delGCC

4 papers

NM_000527.5

p.C116Y

c.347G>A