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

1 paper

NM_013447.4

p.R241C

c.721C>T

Surrounding Variants

1 paper

NM_013447.4

p.R241L

c.722G>T

1 paper

NM_013447.4

p.R241H

c.722G>A

1 paper

NM_013447.4

p.W244*

c.731G>A

1 paper

NM_013447.4

p.W244*

c.732G>A

1 paper

NM_013447.4

p.P251L

c.752C>T

1 paper

NM_013447.4

p.Q254delFs

c.760delG

1 paper

NM_013447.4

p.Q254fs

c.760_761fs

1 paper

NM_013447.4

p.D224G

c.671A>G

1 paper

NM_013447.4

p.Q276_T277Splc

c.828+59G>A

1 paper

NM_013447.4

p.T277T

c.831G>A

1 paper

NM_013447.4

p.F281L

c.841T>C

1 paper

NM_013447.4

p.F281L

c.843C>G