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

1–12 of 148 variants

37 papers

NM_004631.5

p.R952Q

c.2855G>A

16 papers

NM_004631.5

p.D46E

c.138T>G

16 papers

NM_004631.5

p.D46E

c.138T>A

6 papers

NM_004631.5

p.Q25delFs

c.73_74delTG

5 papers

NM_004631.5

p.L24R

c.71T>G

5 papers

NM_004631.5

p.L24delFs

c.71delA

5 papers

NM_004631.5

p.Q25R

c.74A>G

4 papers

NM_004631.5

p.Q25fs

c.73_74fs

4 papers

NM_004631.5

p.Q25del1

c.73_74delCTG

4 papers

NM_004631.5

p.L73_D74del2

c.217_221del6

3 papers

NM_004631.5

p.L24fs

c.70_71fs

3 papers

NM_004631.5

p.L24fs

c.70_71fs