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

2 papers

NM_013447.4

p.V474_I475ins3

c.1422_1423ins9

Surrounding Variants

1 paper

NM_013447.4

p.P476S

c.1426C>T

9 papers

NM_013447.4

p.C492Y

c.1475G>A

1 paper

NM_013447.4

p.T505I

c.1514C>T

1 paper

NM_013447.4

p.C512Y

c.1535G>A

1 paper

NM_013447.4

p.Y527*

c.1581C>G

1 paper

NM_013447.4

p.Y527*

c.1581C>A

1 paper

NM_013447.4

p.R472_S473Splc

c.1416+3G>C

1 paper

NM_013447.4

p.A417D

c.1250C>A

1 paper

NM_013447.4

p.P399L

c.1196C>T

1 paper

NM_013447.4

p.Q379H

c.1137G>T

1 paper

NM_013447.4

p.Q379H

c.1137G>C

1 paper

NM_013447.4

p.R378*

c.1132A>T