Varaico: Literature-Extracted Genetic Variants

LRP2

765 papers

RefSeq Summary

The protein encoded by this gene, low density lipoprotein-related protein 2 (LRP2) or megalin, is a multi-ligand endocytic receptor that is expressed in many different tissues but primarily in absorpt...

Pfam Domains

Ldl_recept_aaa 26–62UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 65–103UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 106–142UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 181–217UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 220–256UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 264–301UCSCLow-density lipoprotein receptor domain class A

Gene Aliases

HGNC Name

LDL receptor related protein 2

HGNC Alias Symbols

gp330; DBS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

22 papers

NM_004525.3

p.I4210L

c.12628A>C

Surrounding Variants

1 paper

NM_004525.3

p.P4208H

c.12623C>A

1 paper

NM_004525.3

p.A4213P

c.12637G>C

1 paper

NM_004525.3

p.W4204C

c.12612G>T

1 paper

NM_004525.3

p.W4204C

c.12612G>C

1 paper

NM_004525.3

p.M4215I

c.12645G>T

1 paper

NM_004525.3

p.M4215I

c.12645G>C

1 paper

NM_004525.3

p.M4215I

c.12645G>A

1 paper

NM_004525.3

p.R4220C

c.12658C>T

1 paper

NM_004525.3

p.F4225F

c.12675C>T

1 paper

NM_004525.3

p.G4229C

c.12685G>T

1 paper

NM_004525.3

p.T4232A

c.12694A>G

1 paper

NM_004525.3

p.N4240delFs

c.12719delT