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

1–12 of 75 variants

4 papers

NM_001974.5

p.V589I

c.1765G>A

2 papers

NM_001974.5

p.E19D

c.57A>T

2 papers

NM_001974.5

p.A57T

c.169G>A

2 papers

NM_001974.5

p.S101*

c.302C>A

2 papers

NM_001974.5

p.S101*

c.302C>G

2 papers

NM_001974.5

p.C157F

c.470G>T

2 papers

NM_001974.5

p.D174N

c.520G>A

2 papers

NM_001974.5

p.C197S

c.589T>A

2 papers

NM_001974.5

p.C197S

c.590G>C

2 papers

NM_001974.5

p.P248L

c.743C>T

2 papers

NM_001974.5

p.N254S

c.761A>G

2 papers

NM_001974.5

p.A298V

c.893C>T