Varaico: Literature-Extracted Genetic Variants

Gene:GPER1
Variant:p.E218Q

GPER1

63 papers

RefSeq Summary

This gene encodes a multi-pass membrane protein that localizes to the endoplasmic reticulum and a member of the G-protein coupled receptor 1 family. This receptor binds estrogen and activates multiple...

Pfam Domains

7tm_1aa 76–324UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

G protein-coupled estrogen receptor 1

HGNC Previous Symbols

CMKRL2; GPR30

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001098201.3
p.E218Q
c.652G>C
Surrounding Variants
1 paper
NM_001098201.3
p.F208F
c.624C>T
1 paper
NM_001098201.3
p.S235F
c.704C>T
1 paper
NM_001098201.3
p.S235S
c.705C>T
3 papers
NM_001098201.3
p.R248H
c.743G>A
1 paper
NM_001098201.3
p.S187L
c.560C>T
1 paper
NM_001098201.3
p.R251W
c.751C>T
1 paper
NM_001098201.3
p.R251delFs
c.752delG
1 paper
NM_001098201.3
p.P252A
c.754C>G
1 paper
NM_001098201.3
p.R253fs
c.757_758fs
1 paper
NM_001098201.3
p.R169C
c.505C>T
1 paper
NM_001098201.3
p.F269L
c.807C>A
1 paper
NM_001098201.3
p.C271Y
c.812G>A
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