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.S517C

c.1550C>G

Surrounding Variants

1 paper

NM_000527.5

p.S517F

c.1550C>T

5 papers

NM_000527.5

p.S517P

c.1549T>C

1 paper

NM_000527.5

p.S517delFs

c.1551delC

7 papers

NM_000527.5

p.K518E

c.1552A>G

1 paper

NM_000527.5

p.K518fs

c.1552_1553fs

3 papers

NM_000527.5

p.K518R

c.1553A>G

5 papers

NM_000527.5

p.G516D

c.1547G>A

4 papers

NM_000527.5

p.G516V

c.1547G>T

10 papers

NM_000527.5

p.G516S

c.1546G>A

1 paper

NM_000527.5

p.G516R

c.1546G>C

1 paper

NM_000527.5

p.K518N

c.1554G>C

1 paper

NM_000527.5

p.K518N

c.1554G>T