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.N520I

c.1559A>T

Surrounding Variants

1 paper

NM_078481.4

p.N520_C525delFs

c.1558_1574del17

1 paper

NM_078481.4

p.G512S

c.1534G>A

2 papers

NM_001784.6

p.S438G

c.1312A>G

NM_078481.4

p.S531G

c.1591A>G

1 paper

NM_078481.4

p.V542M

c.1624G>A

1 paper

NM_078481.4

p.F497S

c.1490T>C

1 paper

NM_078481.4

p.R490W

c.1468C>T

1 paper

NM_078481.4

p.P489A

c.1465C>G

1 paper

NM_078481.4

p.W545R

c.1633T>C

1 paper

NM_078481.4

p.T551A

c.1651A>G

1 paper

NM_078481.4

p.T580T

c.1740C>A

1 paper

NM_078481.4

p.C589R

c.1765T>C

1 paper

NM_078481.4

p.V592M

c.1774G>A