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.D681N

c.2041G>A

Surrounding Variants

1 paper

NM_004525.3

p.N682I

c.2045A>T

1 paper

NM_004525.3

p.R679G

c.2035A>G

1 paper

NM_004525.3

p.V675V

c.2025C>T

1 paper

NM_004525.3

p.V675I

c.2023G>A

3 papers

NM_004525.3

p.R688H

c.2063G>A

1 paper

NM_004525.3

p.V673I

c.2017G>A

1 paper

NM_004525.3

p.C689delFs

c.2066delC

8 papers

NM_004525.3

p.G669D

c.2006G>A

1 paper

NM_004525.3

p.F693F

c.2079C>T

1 paper

NM_004525.3

p.G694S

c.2080G>A

1 paper

NM_004525.3

p.G694D

c.2081G>A

2 papers

NM_004525.3

p.T699T

c.2097A>T