Varaico: Literature-Extracted Genetic Variants

Gene:EDNRB
Variant:p.T42N

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.T42N
c.125C>A
Surrounding Variants
1 paper
NM_001122659.3
p.T42A
c.124A>G
1 paper
NM_001122659.3
p.A43T
c.127G>A
2 papers
NM_001122659.3
p.A43G
c.128C>G
1 paper
NM_001122659.3
p.P38_E44delFs
c.112_131del20
1 paper
NM_001122659.3
p.L39I
c.115C>A
1 paper
NM_001122659.3
p.P38delFs
c.112delG
1 paper
NM_001122659.3
p.P38Q
c.113C>A
1 paper
NM_001122659.3
p.P38T
c.112C>A
1 paper
NM_001122659.3
p.T37T
c.111T>A
1 paper
NM_001122659.3
p.P48T
c.142C>A
1 paper
NM_001122659.3
p.P48P
c.144A>T
1 paper
NM_001122659.3
p.P48insFs
c.143dupC
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