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

5 papers

NM_002337.4

p.Q67delFs

c.199delG

Surrounding Variants

1 paper

NM_002337.4

p.Q67H

c.201G>T

1 paper

NM_002337.4

p.Q67H

c.201G>C

4 papers

NM_002337.4

p.Q67fs

c.199_200fs

1 paper

NM_002337.4

p.R68*

c.202C>T

1 paper

NM_002337.4

p.R68insFs

c.202_203ins37

1 paper

NM_002337.4

p.R68R

c.204A>C

1 paper

NM_002337.4

p.Q61L

c.182A>T

1 paper

NM_002337.4

p.N60H

c.178A>C

1 paper

NM_002337.4

p.E53Q

c.157G>C

1 paper

NM_002337.4

p.E49K

c.145G>A

1 paper

NM_002337.4

p.P46Q

c.137C>A

1 paper

NM_002337.4

p.G33V

c.98G>T