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.M62T

c.185T>C

Surrounding Variants

1 paper

NM_013447.4

p.F51L

c.153C>G

1 paper

NM_013447.4

p.P49L

c.146C>T

1 paper

NM_013447.4

p.S37S

c.111C>T

3 papers

NM_013447.4

p.D36N

c.106G>A

1 paper

NM_013447.4

p.C29Y

c.86G>A

1 paper

NM_013447.4

p.V14I

c.40G>A

1 paper

NM_013447.4

p.D67N

c.199G>A

1 paper

NM_013447.4

p.E70K

c.208G>A

2 papers

NM_013447.4

p.L74P

c.221T>C

1 paper

NM_013447.4

p.P98P

c.294A>G

1 paper

NM_013447.4

p.G99G

c.297A>T

1 paper

NM_013447.4

p.E112Q

c.334G>C