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.N83S

c.248A>G

Surrounding Variants

1 paper

NM_004525.3

p.N83K

c.249C>A

1 paper

NM_004525.3

p.P82P

c.246C>G

1 paper

NM_004525.3

p.I81N

c.242T>A

1 paper

NM_004525.3

p.W85L

c.254G>T

2 papers

NM_004525.3

p.Q79L

c.236A>T

1 paper

NM_004525.3

p.Q79delFs

c.235delG

1 paper

NM_004525.3

p.G78A

c.233G>C

1 paper

NM_004525.3

p.D88G

c.263A>G

1 paper

NM_004525.3

p.D98D

c.294T>C

1 paper

NM_004525.3

p.T66insFs

c.198dupC

1 paper

NM_004525.3

p.R100G

c.298C>G

1 paper

NM_004525.3

p.R100S

c.298C>A