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.N203I

c.608A>T

Surrounding Variants

2 papers

NM_078481.4

p.R189H

c.566G>A

1 paper

NM_078481.4

p.R187H

c.560G>A

1 paper

NM_078481.4

p.V181M

c.541G>A

1 paper

NM_078481.4

p.D160Splc

c.478+88G>A

1 paper

NM_078481.4

p.Q273_T274Splc

c.819+1G>A

1 paper

NM_078481.4

p.K156fs

c.466_467fs

1 paper

NM_078481.4

p.K156delFs

c.467delA

2 papers

NM_078481.4

p.E153Q

c.457G>C

1 paper

NM_078481.4

p.T141P

c.421A>C

1 paper

NM_078481.4

p.G138D

c.413G>A

1 paper

NM_078481.4

p.V134I

c.400G>A

1 paper

NM_078481.4

p.C127_K128insFs

c.381_382insAG