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.A2472V

c.7415C>T

Surrounding Variants

1 paper

NM_004525.3

p.A2472S

c.7414G>T

1 paper

NM_004525.3

p.D2469G

c.7406A>G

1 paper

NM_004525.3

p.R2479I

c.7436G>T

3 papers

NM_004525.3

p.G2464S

c.7390G>A

1 paper

NM_004525.3

p.G2464Splc

c.7391-2A>T

1 paper

NM_004525.3

p.M2493V

c.7477A>G

1 paper

NM_004525.3

p.R2500C

c.7498C>T

1 paper

NM_004525.3

p.R2500P

c.7499G>C

1 paper

NM_004525.3

p.T2501S

c.7501A>T

1 paper

NM_004525.3

p.T2501S

c.7502C>G

1 paper

NM_004525.3

p.R2505H

c.7514G>A

2 papers

NM_004525.3

p.V2506I

c.7516G>A