Varaico: Literature-Extracted Genetic Variants

ADGRE1

69 papers

RefSeq Summary

This gene encodes a protein that has a domain resembling seven transmembrane G protein-coupled hormone receptors (7TM receptors) at its C-terminus. The N-terminus of the encoded protein has six EGF-li...

Pfam Domains

EGF_CAaa 132–170UCSCCalcium-binding EGF domain

EGF_CAaa 172–213UCSCCalcium-binding EGF domain

GPSaa 548–590UCSCGPCR proteolysis site, GPS, motif

7tm_2aa 599–840UCSC7 transmembrane receptor (Secretin family)

Gene Aliases

HGNC Name

adhesion G protein-coupled receptor E1

HGNC Previous Symbols

TM7LN3; EMR1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001974.5

p.E487K

c.1459G>A

Surrounding Variants

1 paper

NM_001974.5

p.M486T

c.1457T>C

1 paper

NM_001974.5

p.A479V

c.1436C>T

1 paper

NM_001974.5

p.R514Q

c.1541G>A

2 papers

NM_001974.5

p.E523K

c.1567G>A

1 paper

NM_001974.5

p.I533V

c.1597A>G

2 papers

NM_001974.5

p.I539V

c.1615A>G

2 papers

NM_001974.5

p.A585E

c.1754C>A

4 papers

NM_001974.5

p.V589I

c.1765G>A

1 paper

NM_001974.5

p.A592E

c.1775C>A

1 paper

NM_001974.5

p.A592V

c.1775C>T

1 paper

NM_001974.5

p.D599N

c.1795G>A

1 paper

NM_001974.5

p.V618I

c.1852G>A