Varaico: Literature-Extracted Genetic Variants

ADGRE3

55 papers

RefSeq Summary

This gene encodes a member of the class B seven-span transmembrane (TM7) receptor family expressed predominantly by cells of the immune system. Family members are characterized by an extended extracel...

Pfam Domains

EGF_CAaa 67–117UCSCCalcium-binding EGF domain

GPSaa 302–344UCSCGPCR proteolysis site, GPS, motif

7tm_2aa 353–594UCSC7 transmembrane receptor (Secretin family)

Gene Aliases

HGNC Name

adhesion G protein-coupled receptor E3

HGNC Previous Symbol

EMR3

Papers

RefSeq ID

Protein change

DNA change

1–12 of 53 variants

4 papers

NM_032571.5

p.E127Q

c.379G>C

2 papers

NM_032571.5

p.V84V

c.252G>A

2 papers

NM_032571.5

p.L380M

c.1138C>A

1 paper

NM_032571.5

p.P4L

c.11C>T

1 paper

NM_032571.5

p.P33fs

c.97_98fs

1 paper

NM_032571.5

p.L57P

c.170T>C

1 paper

NM_032571.5

p.D67N

c.199G>A

1 paper

NM_032571.5

p.S76Fs

c.226delinsTGGFs

1 paper

NM_032571.5

p.E89K

c.265G>A

1 paper

NM_032571.5

p.N111T

c.332A>C

1 paper

NM_032571.5

p.R150Fs

c.448delinsTGGFs

1 paper

NM_032571.5

p.C203_E205delFs

c.607_613del7