Varaico: Literature-Extracted Genetic Variants

LRP8

191 papers

RefSeq Summary

This gene encodes a member of the low density lipoprotein receptor (LDLR) family. Low density lipoprotein receptors are cell surface proteins that play roles in both signal transduction and receptor-m...

Pfam Domains

Ldl_recept_aaa 45–81UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 84–122UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 125–163UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 165–201UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 204–245UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 257–294UCSCLow-density lipoprotein receptor domain class A

Gene Aliases

HGNC Name

LDL receptor related protein 8

HGNC Alias Symbols

APOER2; MCI1; LRP-8; HSZ75190

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004631.5

p.P864T

c.2590C>A

Surrounding Variants

1 paper

NM_004631.5

p.D874D

c.2622C>T

1 paper

NM_004631.5

p.R899S

c.2695C>A

1 paper

NM_004631.5

p.R899H

c.2696G>A

1 paper

NM_004631.5

p.E909delFs

c.2725delC

1 paper

NM_004631.5

p.P905_E909del5

c.2713_2726del15

1 paper

NM_004631.5

p.A917V

c.2750C>T

1 paper

NM_004631.5

p.V925I

c.2773G>A

1 paper

NM_004631.5

p.P927P

c.2781G>A

37 papers

NM_004631.5

p.R952Q

c.2855G>A

1 paper

NM_004631.5

p.E958Q

c.2872G>C

1 paper

NM_004631.5

p.V832M

c.2494G>A

1 paper

NM_004631.5

p.T805S

c.2414C>G