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

2 papers

NM_000527.5

p.A540S

c.1618G>T

Surrounding Variants

56 papers

NM_000527.5

p.A540T

c.1618G>A

26 papers

NM_000527.5

p.P539P

c.1617C>T

1 paper

NM_000527.5

p.A540delFs

c.1618delG

1 paper

NM_000527.5

p.A540A

c.1620C>A

1 paper

NM_000527.5

p.A540A

c.1620C>G

1 paper

NM_000527.5

p.K541E

c.1621A>G

1 paper

NM_000527.5

p.A540del1

c.1618_1619delGCC

2 papers

NM_000527.5

p.T538S

c.1613C>G

1 paper

NM_000527.5

p.T538I

c.1613C>T

1 paper

NM_000527.5

p.K541N

c.1623G>C

1 paper

NM_000527.5

p.K541N

c.1623G>T

3 papers

NM_000527.5

p.I542V

c.1624A>G