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

16 papers

NM_004631.5

p.D46E

c.138T>G

Surrounding Variants

16 papers

NM_004631.5

p.D46E

c.138T>A

1 paper

NM_004631.5

p.K45E

c.133A>G

1 paper

NM_004631.5

p.K45Q

c.133A>C

1 paper

NM_004631.5

p.A44P

c.130G>C

1 paper

NM_004631.5

p.D50G

c.149A>G

1 paper

NM_004631.5

p.G42V

c.125G>T

1 paper

NM_004631.5

p.G42Splc

c.125-8C>T

1 paper

NM_004631.5

p.R55R

c.163C>A

1 paper

NM_004631.5

p.F52_R58del0

c.156_173del18

1 paper

NM_004631.5

p.C72S

c.215G>C

1 paper

NM_004631.5

p.S62_D71del10

c.184_212del30

4 papers

NM_004631.5

p.L73_D74del2

c.217_221del6