Varaico: Literature-Extracted Genetic Variants

Gene:GPER1
Variant:p.E48*

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
1 paper
NM_001098201.3
p.E48*
c.142G>T
Surrounding Variants
1 paper
NM_001098201.3
p.G47insFs
c.141dupT
1 paper
NM_001098201.3
p.N44I
c.131A>T
1 paper
NM_001098201.3
p.Q53L
c.158A>T
1 paper
NM_001098201.3
p.A41T
c.121G>A
1 paper
NM_001098201.3
p.V56M
c.166G>A
2 papers
NM_001098201.3
p.L37L
c.111C>T
1 paper
NM_001098201.3
p.N32I
c.95A>T
1 paper
NM_001098201.3
p.T66I
c.197C>T
1 paper
NM_001098201.3
p.N25I
c.74A>T
1 paper
NM_001098201.3
p.P24H
c.71C>A
12 papers
NM_001098201.3
p.P16L
c.47C>T
1 paper
NM_001098201.3
p.S5F
c.14C>T
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