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_001784.6

p.S738A

c.2212T>G

Surrounding Variants

1 paper

NM_078481.4

p.G834S

c.2500G>A

1 paper

NM_078481.4

p.R826W

c.2476C>T

1 paper

NM_078481.4

p.H822fs

c.2464_2465fs

1 paper

NM_078481.4

p.H822Fs

c.2464_2466delinsAAFs

1 paper

NM_078481.4

p.R794W

c.2380C>T

1 paper

NM_078481.4

p.D761D

c.2283C>T

1 paper

NM_078481.4

p.T741A

c.2221A>G

1 paper

NM_078481.4

p.R736T

c.2207G>C

1 paper

NM_078481.4

p.A735V

c.2204C>T

1 paper

NM_078481.4

p.E724G

c.2171A>G

1 paper

NM_078481.4

p.I666M

c.1998C>G

1 paper

NM_078481.4

p.L665F

c.1993C>T