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.M725R

c.2174T>G

Surrounding Variants

1 paper

NM_004631.5

p.P729_D730insFs

c.2187_2188insA

1 paper

NM_004631.5

p.A720S

c.2158G>T

1 paper

NM_004631.5

p.M731I

c.2193G>T

1 paper

NM_004631.5

p.M731I

c.2193G>C

1 paper

NM_004631.5

p.M731I

c.2193G>A

1 paper

NM_004631.5

p.Y735H

c.2203T>C

1 paper

NM_004631.5

p.R736*

c.2206C>T

2 papers

NM_004631.5

p.R736Q

c.2207G>A

1 paper

NM_004631.5

p.C704C

c.2112C>T

1 paper

NM_004631.5

p.C704F

c.2111G>T

1 paper

NM_033300.4

p.E521Q

c.1561G>C

1 paper

NM_004631.5

p.T764delFs

c.2291_2292delGG