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

8 papers

NM_004525.3

p.Y2522H

c.7564T>C

Surrounding Variants

1 paper

NM_004525.3

p.G2519V

c.7556G>T

3 papers

NM_004525.3

p.R2542C

c.7624C>T

1 paper

NM_004525.3

p.A2530_F2541del12

c.7588_7622del36

1 paper

NM_004525.3

p.R2542R

c.7626C>T

1 paper

NM_004525.3

p.R2542R

c.7626C>G

3 papers

NM_004525.3

p.V2543I

c.7627G>A

1 paper

NM_004525.3

p.V2551L

c.7651G>C

1 paper

NM_004525.3

p.T2557S

c.7669A>T

1 paper

NM_004525.3

p.T2557S

c.7670C>G

1 paper

NM_004525.3

p.W2567L

c.7700G>T

2 papers

NM_004525.3

p.L2572Splc

c.7715+3A>T

1 paper

NM_004525.3

p.P2507L

c.7520C>T