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

Selected Variant

3 papers

NM_013447.4

p.K154I

c.461A>T

Surrounding Variants

3 papers

NM_013447.4

p.L153F

c.457C>T

2 papers

NM_013447.4

p.D157D

c.471C>T

4 papers

NM_013447.4

p.L160V

c.478C>G

1 paper

NM_013447.4

p.T144T

c.432G>C

1 paper

NM_013447.4

p.L140L

c.420C>T

1 paper

NM_013447.4

p.Q124*

c.370C>T

1 paper

NM_013447.4

p.G170R

c.508G>C

1 paper

NM_013447.4

p.G170R

c.508G>A

2 papers

NM_013447.4

p.T178N

c.533C>A

1 paper

NM_013447.4

p.W195*

c.584G>A

1 paper

NM_013447.4

p.W195*

c.585G>A

1 paper

NM_013447.4

p.P197L

c.590C>T