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

2 papers

NM_001974.5

p.C157F

c.470G>T

Surrounding Variants

1 paper

NM_001974.5

p.E144*

c.430G>T

1 paper

NM_001974.5

p.S140R

c.420C>A

1 paper

NM_001974.5

p.S140R

c.420C>G

1 paper

NM_001974.5

p.S140T

c.419G>C

1 paper

NM_001974.5

p.S140R

c.418A>C

1 paper

NM_001974.5

p.T138A

c.412A>G

1 paper

NM_001974.5

p.E135G

c.404A>G

1 paper

NM_001974.5

p.D132Splc

c.394+34G>A

1 paper

NM_001974.5

p.D132A

c.395A>C

1 paper

NM_001974.5

p.P125L

c.374C>T

2 papers

NM_001974.5

p.S101*

c.302C>A

2 papers

NM_001974.5

p.S101*

c.302C>G