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

11 papers

NM_004525.3

p.N3205D

c.9613A>G

Surrounding Variants

1 paper

NM_004525.3

p.R3206C

c.9616C>T

1 paper

NM_004525.3

p.F3203fs

c.9607_9608fs

1 paper

NM_004525.3

p.R3206H

c.9617G>A

2 papers

NM_004525.3

p.E3198K

c.9592G>A

1 paper

NM_004525.3

p.G3216V

c.9647G>T

1 paper

NM_004525.3

p.Y3217C

c.9650A>G

3 papers

NM_004525.3

p.R3192Q

c.9575G>A

2 papers

NM_004525.3

p.T3190P

c.9568A>C

6 papers

NM_004525.3

p.R3184*

c.9550C>T

1 paper

NM_004525.3

p.Y3182F

c.9545A>T

1 paper

NM_004525.3

p.C3176Y

c.9527G>A

1 paper

NM_004525.3

p.F3234delFs

c.9702delA