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.S576L

c.1727C>T

Surrounding Variants

1 paper

NM_013447.4

p.S576S

c.1728G>A

2 papers

NM_013447.4

p.S570*

c.1709C>G

2 papers

NM_013447.4

p.S570*

c.1709C>A

1 paper

NM_013447.4

p.L585_F586delFs

c.1755_1756delAG

1 paper

NM_013447.4

p.L559V

c.1675C>G

1 paper

NM_013447.4

p.L556F

c.1666C>T

1 paper

NM_013447.4

p.L548L

c.1644G>T

1 paper

NM_013447.4

p.S547F

c.1640C>T

2 papers

NM_013447.4

p.M542V

c.1624A>G

1 paper

NM_013447.4

p.E531_D533delFs

c.1591_1597del7

1 paper

NM_013447.4

p.E531fs

c.1591_1592fs

1 paper

NM_013447.4

p.T605I

c.1814C>T