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.P2035L

c.6104C>T

Surrounding Variants

1 paper

NM_004525.3

p.C2033Y

c.6098G>A

1 paper

NM_004525.3

p.A2044T

c.6130G>A

1 paper

NM_004525.3

p.C2045S

c.6133T>A

1 paper

NM_004525.3

p.C2045S

c.6134G>C

1 paper

NM_004525.3

p.A2046V

c.6137C>T

1 paper

NM_004525.3

p.N2024S

c.6071A>G

1 paper

NM_004525.3

p.G2048V

c.6143G>T

1 paper

NM_004525.3

p.C2022S

c.6065G>C

1 paper

NM_004525.3

p.C2022S

c.6064T>A

14 papers

NM_004525.3

p.D2054N

c.6160G>A

1 paper

NM_004525.3

p.N2055I

c.6164A>T

1 paper

NM_004525.3

p.S2059F

c.6176C>T