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

1 paper

NM_004525.3

p.Q1308E

c.3922C>G

Surrounding Variants

1 paper

NM_004525.3

p.Q1308R

c.3923A>G

1 paper

NM_004525.3

p.R1311C

c.3931C>T

1 paper

NM_004525.3

p.R1311H

c.3932G>A

1 paper

NM_004525.3

p.R1292Q

c.3875G>A

1 paper

NM_004525.3

p.W1288*

c.3864G>A

8 papers

NM_004525.3

p.D1279A

c.3836A>C

1 paper

NM_004525.3

p.D1337N

c.4009G>A

1 paper

NM_004525.3

p.N1340S

c.4019A>G

1 paper

NM_004525.3

p.S1273*

c.3818C>G

1 paper

NM_004525.3

p.S1273*

c.3818C>A

1 paper

NM_004525.3

p.P1272T

c.3814C>A

1 paper

NM_004525.3

p.S1345insFs

c.4034_4035insGT