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

5 papers

NM_004631.5

p.Q25R

c.74A>G

Surrounding Variants

1 paper

NM_004631.5

p.Q25L

c.74A>T

1 paper

NM_004631.5

p.L24del1

c.70_71delCAG

1 paper

NM_004631.5

p.L23_Q25delins

c.68_74delinsGGCG

2 papers

NM_004631.5

p.Q25fs

c.73_74fs

6 papers

NM_004631.5

p.Q25delFs

c.73_74delTG

4 papers

NM_004631.5

p.Q25fs

c.73_74fs

1 paper

NM_004631.5

p.Q25*

c.73C>T

3 papers

NM_004631.5

p.L24fs

c.70_71fs

5 papers

NM_004631.5

p.L24delFs

c.71delA

2 papers

NM_004631.5

p.L21_L24delFs

c.62_71del10

1 paper

NM_004631.5

p.L26ins1

c.76_77insGGC

5 papers

NM_004631.5

p.L24R

c.71T>G