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.L804R

c.2411T>G

Surrounding Variants

6 papers

NM_000527.5

p.L804P

c.2411T>C

56 papers

NM_000527.5

p.V806insFs

c.2416dupG

2 papers

NM_000527.5

p.V806delFs

c.2416delG

2 papers

NM_000527.5

p.L804delFs

c.2411delT

1 paper

NM_000527.5

p.L804fs

c.2410_2411fs

1 paper

NM_000527.5

p.C803_L804insFs

c.2409_2410insCT

9 papers

NM_000527.5

p.G805R

c.2413G>A

9 papers

NM_000527.5

p.G805R

c.2413G>C

1 paper

NM_000527.5

p.G805W

c.2413G>T

1 paper

NM_000527.5

p.G805E

c.2414G>A

1 paper

NM_000527.5

p.G805A

c.2414G>C

2 papers

NM_000527.5

p.C803insFs

c.2408_2409insC