Varaico: Literature-Extracted Genetic Variants

Gene:EDNRB
Variant:p.S120S

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.S120S
c.360C>G
Surrounding Variants
1 paper
NM_001122659.3
p.S120T
c.358T>A
1 paper
NM_001122659.3
p.G118_N119delins
c.354_355delinsAG
1 paper
NM_001122659.3
p.G118G
c.354G>T
1 paper
NM_001122659.3
p.L123L
c.367C>T
1 paper
NM_001122659.3
p.L123Fs
c.367delinsTTFs
1 paper
NM_001122659.3
p.G115R
c.343G>C
2 papers
NM_001122659.3
p.Y127C
c.380A>G
1 paper
NM_001122659.3
p.K130fs
c.388_389fs
1 paper
NM_001122659.3
p.N129_K130insFs
c.387_388insC
1 paper
NM_001122659.3
p.V111L
c.331G>T
3 papers
NM_001122659.3
p.L110F
c.328C>T
1 paper
NM_001122659.3
p.C131_M132insFs
c.393_394insG
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