Varaico: Literature-Extracted Genetic Variants

Gene:EDNRB
Variant:p.E28D

EDNRB

450 papers

RefSeq Summary

The protein encoded by this gene is a G protein-coupled receptor which activates a phosphatidylinositol-calcium second messenger system. Its ligand, endothelin, consists of a family of three potent va...

Pfam Domains

7tm_1aa 118–387UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

endothelin receptor type B

HGNC Previous Symbols

HSCR2; HSCR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001122659.3
p.E28D
c.84G>C
Surrounding Variants
1 paper
NM_001122659.3
p.E28D
c.84G>T
1 paper
NM_001122659.3
p.E27*
c.79G>T
1 paper
NM_001122659.3
p.G30A
c.89G>C
1 paper
NM_001122659.3
p.G26insFs
c.76dupG
1 paper
NM_001122659.3
p.P32S
c.94C>T
1 paper
NM_001122659.3
p.P32L
c.95C>T
1 paper
NM_001122659.3
p.C19_R23delFs
c.56_68del13
1 paper
NM_001122659.3
p.S22*
c.65C>A
1 paper
NM_001122659.3
p.T37T
c.111T>A
1 paper
NM_001201397.2
p.C109*
c.327C>A
1 paper
NM_001122659.3
p.C19delFs
c.56delC
1 paper
NM_001122659.3
p.P38T
c.112C>A
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