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.L115P

c.344T>C

Surrounding Variants

2 papers

NM_002337.4

p.N114S

c.341A>G

1 paper

NM_002337.4

p.N116S

c.347A>G

4 papers

NM_002337.4

p.R113H

c.338G>A

1 paper

NM_002337.4

p.G100C

c.298G>T

1 paper

NM_002337.4

p.G100S

c.298G>A

1 paper

NM_002337.4

p.L98delFs

c.292delG

1 paper

NM_002337.4

p.A92T

c.274G>A

1 paper

NM_002337.4

p.E90K

c.268G>A

1 paper

NM_002337.4

p.R88_E90Fs

c.264_268delinsTCTCFs

1 paper

NM_002337.4

p.R88insFs

c.264dupG

1 paper

NM_002337.4

p.R88_D89Fs

c.262_266delinsTCTCFs

1 paper

NM_002337.4

p.E78_L79insFs

c.234_235insAA