Varaico: Literature-Extracted Genetic Variants

ADGRE2

101 papers

RefSeq Summary

This gene encodes a member of the class B seven-span transmembrane (TM7) subfamily of G-protein coupled receptors. These proteins are characterized by an extended extracellular region with a variable ...

Pfam Domains

EGF_CAaa 67–117UCSCCalcium-binding EGF domain

EGF_CAaa 119–161UCSCCalcium-binding EGF domain

EGF_CAaa 163–210UCSCCalcium-binding EGF domain

EGF_CAaa 212–259UCSCCalcium-binding EGF domain

GPSaa 480–523UCSCGPCR proteolysis site, GPS, motif

7tm_2aa 533–774UCSC7 transmembrane receptor (Secretin family)

Gene Aliases

HGNC Name

adhesion G protein-coupled receptor E2

HGNC Previous Symbol

EMR2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 105 variants

9 papers

NM_013447.4

p.C492Y

c.1475G>A

4 papers

NM_013447.4

p.L160V

c.478C>G

3 papers

NM_013447.4

p.D36N

c.106G>A

3 papers

NM_013447.4

p.L153F

c.457C>T

3 papers

NM_013447.4

p.K154I

c.461A>T

3 papers

NM_013447.4

p.S665F

c.1994C>T

2 papers

NM_013447.4

p.M62T

c.185T>C

2 papers

NM_013447.4

p.L74P

c.221T>C

2 papers

NM_013447.4

p.D157D

c.471C>T

2 papers

NM_013447.4

p.T178N

c.533C>A

2 papers

NM_013447.4

p.V474_I475ins3

c.1422_1423ins9

2 papers

NM_013447.4

p.M542V

c.1624A>G