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.C352R

c.1054T>C

Surrounding Variants

1 paper

NM_004525.3

p.C352*

c.1056C>A

1 paper

NM_004525.3

p.D351H

c.1051G>C

1 paper

NM_004525.3

p.G356delFs

c.1067_1068delTC

7 papers

NM_004525.3

p.R365*

c.1093C>T

1 paper

NM_004525.3

p.G367G

c.1101C>T

1 paper

NM_004525.3

p.R368H

c.1103G>A

1 paper

NM_004525.3

p.E375_G376del1

c.1124_1126delCTT

1 paper

NM_004525.3

p.E375_G376del2

c.1123_1127del6

1 paper

NM_004525.3

p.Y377insFs

c.1129dupT

1 paper

NM_004525.3

p.L379L

c.1137G>A

1 paper

NM_004525.3

p.E380E

c.1140G>A

1 paper

NM_004525.3

p.R381delFs

c.1143delA