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

24 papers

NM_000527.5

p.R574C

c.1720C>T

Surrounding Variants

5 papers

NM_000527.5

p.R574S

c.1720C>A

20 papers

NM_000527.5

p.R574H

c.1721G>A

9 papers

NM_000527.5

p.R574L

c.1721G>T

1 paper

NM_000527.5

p.L575delins

c.1723delinsACCCGAC

11 papers

NM_000527.5

p.L575F

c.1723C>T

1 paper

NM_000527.5

p.S572R

c.1716T>A

2 papers

NM_000527.5

p.L575P

c.1724T>C

1 paper

NM_000527.5

p.S572R

c.1716T>G

1 paper

NM_000527.5

p.G573delFs

c.1718delG

1 paper

NM_000527.5

p.L575L

c.1725C>G

24 papers

NM_000527.5

p.L575L

c.1725C>T

2 papers

NM_000527.5

p.Y576delFs

c.1726delT