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.G592W

c.1774G>T

Surrounding Variants

14 papers

NM_000527.5

p.G592R

c.1774G>A

10 papers

NM_000527.5

p.G592R

c.1774G>C

7 papers

NM_000527.5

p.G593insFs

c.1778dupG

54 papers

NM_000527.5

p.N591N

c.1773C>T

8 papers

NM_000527.5

p.G592delFs

c.1774delG

1 paper

NM_000527.5

p.N591_G592Fs

c.1773_1774delinsTFs

5 papers

NM_000527.5

p.G592_G593del1

c.1776_1778delGGG

157 papers

NM_000527.5

p.G592E

c.1775G>A

1 paper

NM_000527.5

p.G592V

c.1775G>T

1 paper

NM_000527.5

p.N591S

c.1772A>G

1 paper

NM_000527.5

p.N591_G592del1

c.1773_1775delCGG

3 papers

NM_000527.5

p.G593del1

c.1777_1778delGGC