Varaico: Literature-Extracted Genetic Variants

Gene:EDNRB
Variant:p.I222T

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.I222T
c.665T>C
Surrounding Variants
1 paper
NM_001122659.3
p.V223I
c.667G>A
1 paper
NM_001122659.3
p.V223V
c.669T>C
2 papers
NM_001122659.3
p.I225V
c.673A>G
1 paper
NM_001122659.3
p.T218T
c.654A>T
1 paper
NM_001122659.3
p.W226*
c.677G>A
1 paper
NM_001201397.2
p.L314_I315del2
c.940_944del6
3 papers
NM_001122659.3
p.W226C
c.678G>T
3 papers
NM_001122659.3
p.W226C
c.678G>C
1 paper
NM_001122659.3
p.W226*
c.678G>A
1 paper
NM_001122659.3
p.G213A
c.638G>C
1 paper
NM_001122659.3
p.I212M
c.636T>G
1 paper
NM_001122659.3
p.S207_G211delFs
c.620_633del14
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