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

9 papers

NM_000527.5

p.G676R

c.2026G>C

Surrounding Variants

8 papers

NM_000527.5

p.G676S

c.2026G>A

7 papers

NM_000527.5

p.G676fs

c.2026_2027fs

1 paper

NM_000527.5

p.G676C

c.2026G>T

18 papers

NM_000527.5

p.G676fs

c.2026_2027fs

2 papers

NM_000527.5

p.G675_G676insFs

c.2025_2026insA

2 papers

NM_000527.5

p.G675_G676insFs

c.2025_2026insG

2 papers

NM_000527.5

p.G675_G676insFs

c.2025_2026insT

2 papers

NM_000527.5

p.G675G

c.2025C>T

23 papers

NM_000527.5

p.G676delFs

c.2027delG

3 papers

NM_000527.5

p.G676A

c.2027G>C

1 paper

NM_000527.5

p.Q678_L682del0

c.2033_2044del12

2 papers

NM_000527.5

p.G675_G676insFs

c.2025_2026insC