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.M663T

c.1988T>C

Surrounding Variants

1 paper

NM_001974.5

p.G664S

c.1990G>A

1 paper

NM_001974.5

p.A669V

c.2006C>T

1 paper

NM_001974.5

p.Y674*

c.2022C>A

1 paper

NM_001974.5

p.Y674*

c.2022C>G

1 paper

NM_001974.5

p.L711L

c.2131C>T

1 paper

NM_001974.5

p.G655A

c.1964G>C

1 paper

NM_001974.5

p.A648V

c.1943C>T

2 papers

NM_001974.5

p.R631Q

c.1892G>A

1 paper

NM_001974.5

p.V618G

c.1853T>G

1 paper

NM_001974.5

p.V618I

c.1852G>A

1 paper

NM_001974.5

p.D599N

c.1795G>A

1 paper

NM_001974.5

p.V763_I764Splc

c.2289+47A>T