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

23 papers

NM_000527.5

p.A399T

c.1195G>A

Surrounding Variants

5 papers

NM_000527.5

p.A399S

c.1195G>T

14 papers

NM_000527.5

p.A399D

c.1196C>A

8 papers

NM_000527.5

p.I398I

c.1194C>T

5 papers

NM_000527.5

p.A399V

c.1196C>T

6 papers

NM_000527.5

p.Y400_F403del0

c.1199_1207del9

1 paper

NM_000527.5

p.A399A

c.1197C>A

1 paper

NM_000527.5

p.I398T

c.1193T>C

1 paper

NM_000527.5

p.I398L

c.1192A>C

1 paper

NM_000527.5

p.I398V

c.1192A>G

2 papers

NM_000527.5

p.I398F

c.1192A>T

1 paper

NM_000527.5

p.I398fs

c.1192_1193fs

1 paper

NM_000527.5

p.Y400N

c.1198T>A