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.P150_A151insFs

c.450_451insA

Surrounding Variants

1 paper

NM_000527.5

p.P150H

c.449C>A

1 paper

NM_000527.5

p.P150R

c.449C>G

1 paper

NM_000527.5

p.P150L

c.449C>T

6 papers

NM_000527.5

p.A151T

c.451G>A

8 papers

NM_000527.5

p.A151P

c.451G>C

1 paper

NM_000527.5

p.A151S

c.451G>T

1 paper

NM_000527.5

p.A151fs

c.451_452fs

1 paper

NM_000527.5

p.A151D

c.452C>A

1 paper

NM_000527.5

p.P150fs

c.448_449fs

1 paper

NM_000527.5

p.P150A

c.448C>G

1 paper

NM_000527.5

p.A151G

c.452C>G

2 papers

NM_000527.5

p.P150S

c.448C>T