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

1–12 of 1056 variants

22 papers

NM_004525.3

p.I4210L

c.12628A>C

20 papers

NM_004525.3

p.K4094E

c.12280A>G

16 papers

NM_004525.3

p.A2872T

c.8614G>A

14 papers

NM_004525.3

p.D2054N

c.6160G>A

11 papers

NM_004525.3

p.N3205D

c.9613A>G

8 papers

NM_004525.3

p.N83S

c.248A>G

8 papers

NM_004525.3

p.G669D

c.2006G>A

8 papers

NM_004525.3

p.D1279A

c.3836A>C

8 papers

NM_004525.3

p.Y2522H

c.7564T>C

8 papers

NM_004525.3

p.P4380insFs

c.13139_13140insC

7 papers

NM_004525.3

p.R365*

c.1093C>T

6 papers

NM_004525.3

p.R3184*

c.9550C>T