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.P4378L

c.13133C>T

Surrounding Variants

1 paper

NM_004525.3

p.P4380fs

c.13138_13139fs

8 papers

NM_004525.3

p.P4380insFs

c.13139_13140insC

1 paper

NM_004525.3

p.P4380insFs

c.13139_13140insCC

5 papers

NM_004525.3

p.P4380fs

c.13138_13139fs

3 papers

NM_004525.3

p.P4380delFs

c.13139delG

1 paper

NM_004525.3

p.P4380insFs

c.13140dupA

4 papers

NM_004525.3

p.C4381fs

c.13141_13142fs

3 papers

NM_004525.3

p.C4381fs

c.13141_13142fs

1 paper

NM_004525.3

p.P4374A

c.13120C>G

1 paper

NM_004525.3

p.M4384L

c.13150A>T

1 paper

NM_004525.3

p.M4384L

c.13150A>C

6 papers

NM_004525.3

p.E4372K

c.13114G>A