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.R2820S

c.8458C>A

Surrounding Variants

1 paper

NM_004525.3

p.I2834S

c.8501T>G

1 paper

NM_004525.3

p.I2836V

c.8506A>G

1 paper

NM_004525.3

p.I2836M

c.8508T>G

1 paper

NM_004525.3

p.V2839_Y2840delFs

c.8516_8519del4

1 paper

NM_004525.3

p.D2843D

c.8529C>T

1 paper

NM_004525.3

p.G2849A

c.8546G>C

2 papers

NM_004525.3

p.T2860Splc

c.8578+2T>A

16 papers

NM_004525.3

p.A2872T

c.8614G>A

1 paper

NM_004525.3

p.R2875H

c.8624G>A

1 paper

NM_004525.3

p.I2877insFs

c.8629_8630dupAT

1 paper

NM_004525.3

p.P2878fs

c.8632_8633fs

1 paper

NM_004525.3

p.Y2882H

c.8644T>C