Varaico: Literature-Extracted Genetic Variants

LRPAP1

146 papers

RefSeq Summary

This gene encodes a protein that interacts with the low density lipoprotein (LDL) receptor-related protein and facilitates its proper folding and localization by preventing the binding of ligands. Mut...

Pfam Domains

Alpha-2-MRAP_Naa 17–134UCSCAlpha-2-macroglobulin RAP, N-terminal domain

Alpha-2-MRAP_Caa 145–357UCSCAlpha-2-macroglobulin RAP, C-terminal domain

Gene Aliases

HGNC Name

LDL receptor related protein associated protein 1

HGNC Previous Symbol

A2MRAP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_002337.4

p.V311M

c.931G>A

Surrounding Variants

1 paper

NM_002337.4

p.E309G

c.926A>G

1 paper

NM_002337.4

p.G314D

c.941G>A

1 paper

NM_002337.4

p.E315K

c.943G>A

1 paper

NM_002337.4

p.E315A

c.944A>C

1 paper

NM_002337.4

p.R319P

c.956G>C

1 paper

NM_002337.4

p.R319H

c.956G>A

1 paper

NM_002337.4

p.R321H

c.962G>A

1 paper

NM_002337.4

p.Q295P

c.884A>C

1 paper

NM_002337.4

p.R330Q

c.989G>A

1 paper

NM_002337.4

p.I288delFs

c.864delG

9 papers

NM_002337.4

p.I288delFs

c.863_864delGA

1 paper

NM_002337.4

p.L334L

c.1000C>T