Varaico: Literature-Extracted Genetic Variants

Gene:EDNRB
Variant:p.G9E

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
3 papers
NM_001122659.3
p.G9E
c.26G>A
Surrounding Variants
1 paper
NM_001122659.3
p.G9*
c.25G>T
1 paper
NM_001122659.3
p.G9R
c.25G>A
1 paper
NM_001122659.3
p.C8insFs
c.23dupG
1 paper
NM_001122659.3
p.R10R
c.30C>T
1 paper
NM_001122659.3
p.L7L
c.19C>T
1 paper
NM_001122659.3
p.L7M
c.19C>A
3 papers
NM_001122659.3
p.S6R
c.18T>A
1 paper
NM_001122659.3
p.L12insFs
c.35_36insT
1 paper
NM_001122659.3
p.L12delFs
c.35delA
1 paper
NM_001122659.3
p.S6G
c.16A>G
1 paper
NM_001122659.3
p.V13L
c.37G>C
1 paper
NM_001122659.3
p.P5_L12delFs
c.15_36del22
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