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

2 papers

NM_002337.4

p.S30C

c.88A>T

Surrounding Variants

1 paper

NM_002337.4

p.H31Y

c.91C>T

1 paper

NM_002337.4

p.G32C

c.94G>T

1 paper

NM_002337.4

p.G33V

c.98G>T

1 paper

NM_002337.4

p.P25S

c.73C>T

1 paper

NM_002337.4

p.G24A

c.71G>C

1 paper

NM_002337.4

p.L23del1

c.67_68delGAG

1 paper

NM_002337.4

p.L20V

c.58C>G

1 paper

NM_002337.4

p.L13insFs

c.39dupC

1 paper

NM_002337.4

p.P46Q

c.137C>A

1 paper

NM_002337.4

p.L13V

c.37C>G

2 papers

NM_002337.4

p.G12V

c.35G>T

1 paper

NM_002337.4

p.G12R

c.34G>C