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

20 papers

NM_004525.3

p.K4094E

c.12280A>G

Surrounding Variants

1 paper

NM_004525.3

p.P4093R

c.12278C>G

1 paper

NM_004525.3

p.I4096T

c.12287T>C

1 paper

NM_004525.3

p.E4076A

c.12227A>C

1 paper

NM_004525.3

p.S4075L

c.12224C>T

1 paper

NM_004525.3

p.R4073M

c.12218G>T

2 papers

NM_004525.3

p.E4072Q

c.12214G>C

1 paper

NM_004525.3

p.R4065_S4070delFs

c.12194_12209del16

1 paper

NM_004525.3

p.R4065Q

c.12194G>A

2 papers

NM_004525.3

p.R4065*

c.12193C>T

1 paper

NM_004525.3

p.I4064N

c.12191T>A

2 papers

NM_004525.3

p.L4055F

c.12165G>T

2 papers

NM_004525.3

p.L4055F

c.12165G>C