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

1 paper

NM_002337.4

p.H221D

c.661C>G

Surrounding Variants

1 paper

NM_002337.4

p.R220T

c.659G>C

1 paper

NM_002337.4

p.T222S

c.664A>T

1 paper

NM_002337.4

p.R220W

c.658A>T

1 paper

NM_002337.4

p.R220G

c.658A>G

1 paper

NM_002337.4

p.L224_K225del0

c.670_675del6

1 paper

NM_002337.4

p.S215N

c.644G>A

1 paper

NM_002337.4

p.R229H

c.686G>A

1 paper

NM_002337.4

p.S230I

c.689G>T

3 papers

NM_002337.4

p.D211N

c.631G>A

1 paper

NM_002337.4

p.L209L

c.627G>C

1 paper

NM_002337.4

p.L209M

c.625C>A

1 paper

NM_002337.4

p.G234_L235insAA

c.700_704ins6