Varaico: Literature-Extracted Genetic Variants

ADGRE5

68 papers

RefSeq Summary

This gene encodes a member of the EGF-TM7 subfamily of adhesion G protein-coupled receptors, which mediate cell-cell interactions. These proteins are cleaved by self-catalytic proteolysis into a large...

Pfam Domains

EGF_CAaa 64–114UCSCCalcium-binding EGF domain

EGF_CAaa 116–158UCSCCalcium-binding EGF domain

EGF_CAaa 160–207UCSCCalcium-binding EGF domain

EGF_CAaa 209–256UCSCCalcium-binding EGF domain

GPSaa 493–536UCSCGPCR proteolysis site, GPS, motif

7tm_2aa 544–782UCSC7 transmembrane receptor (Secretin family)

Gene Aliases

HGNC Name

adhesion G protein-coupled receptor E5

HGNC Previous Symbol

CD97

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_078481.4

p.A8P

c.22G>C

Surrounding Variants

1 paper

NM_078481.4

p.A8Splc

c.22+1G>A

1 paper

NM_078481.4

p.V5D

c.14T>A

1 paper

NM_078481.4

p.M1K

c.2T>A

1 paper

NM_078481.4

p.T14A

c.40A>G

1 paper

NM_078481.4

p.R28R

c.84G>T

2 papers

NM_078481.4

p.N33D

c.97A>G

1 paper

NM_078481.4

p.N33I

c.98A>T

1 paper

NM_078481.4

p.N38I

c.113A>T

1 paper

NM_078481.4

p.A41S

c.121G>T

1 paper

NM_078481.4

p.T59M

c.176C>T

1 paper

NM_078481.4

p.C68S

c.202T>A

1 paper

NM_078481.4

p.C68S

c.203G>C