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.E184D

c.552G>C

Surrounding Variants

1 paper

NM_001974.5

p.E184D

c.552G>T

1 paper

NM_001974.5

p.C176S

c.527G>C

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

1 paper

NM_001974.5

p.S218L

c.653C>T

2 papers

NM_001974.5

p.P248L

c.743C>T

2 papers

NM_001974.5

p.N254S

c.761A>G

1 paper

NM_001974.5

p.R273L

c.818G>T

1 paper

NM_001974.5

p.L289L

c.867G>A

2 papers

NM_001974.5

p.A298V

c.893C>T

1 paper

NM_001974.5

p.P302R

c.905C>G