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

1–12 of 129 variants

9 papers

NM_002337.4

p.I288fs

c.862_863fs

9 papers

NM_002337.4

p.I288delFs

c.863_864delGA

7 papers

NM_002337.4

p.N202fs

c.604_605fs

6 papers

NM_002337.4

p.N202delFs

c.605delT

5 papers

NM_002337.4

p.Q67delFs

c.199delG

4 papers

NM_002337.4

p.Q67fs

c.199_200fs

4 papers

NM_002337.4

p.R113H

c.338G>A

4 papers

NM_002337.4

p.V311M

c.931G>A

3 papers

NM_002337.4

p.D211N

c.631G>A

2 papers

NM_002337.4

p.G12V

c.35G>T

2 papers

NM_002337.4

p.S30C

c.88A>T

2 papers

NM_002337.4

p.N114S

c.341A>G