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

Selected Variant

1 paper

NM_032571.5

p.I466I

c.1398C>T

Surrounding Variants

1 paper

NM_032571.5

p.F468L

c.1402T>C

1 paper

NM_032571.5

p.F468L

c.1404C>G

1 paper

NM_032571.5

p.F468L

c.1404C>A

1 paper

NM_032571.5

p.M463I

c.1389G>T

1 paper

NM_032571.5

p.M463I

c.1389G>C

1 paper

NM_032571.5

p.M463I

c.1389G>A

1 paper

NM_032571.5

p.G471S

c.1411G>A

1 paper

NM_032571.5

p.V474I

c.1420G>A

1 paper

NM_032571.5

p.L489F

c.1465C>T

1 paper

NM_032571.5

p.R495*

c.1483C>T

1 paper

NM_032571.5

p.R495Splc

c.1484+3G>A

1 paper

NM_032571.5

p.G424S

c.1270G>A