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

1 paper

NM_078481.4

p.D81A

c.242A>C

Surrounding Variants

1 paper

NM_078481.4

p.S80L

c.239C>T

1 paper

NM_078481.4

p.E86A

c.257A>C

1 paper

NM_078481.4

p.G87W

c.259G>T

1 paper

NM_078481.4

p.C91S

c.271T>A

2 papers

NM_078481.4

p.P71L

c.212C>T

1 paper

NM_078481.4

p.C91S

c.272G>C

1 paper

NM_078481.4

p.C68S

c.203G>C

1 paper

NM_078481.4

p.C68S

c.202T>A

1 paper

NM_078481.4

p.N108I

c.323A>T

1 paper

NM_078481.4

p.N112delFs

c.334_335delAA

1 paper

NM_078481.4

p.N112insFs

c.335_336insTG

1 paper

NM_078481.4

p.T59M

c.176C>T