Varaico: Literature-Extracted Genetic Variants

Gene:EDNRB
Variant:p.D75fs

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.D75fs
c.223_224fs
Surrounding Variants
1 paper
NM_001122659.3
p.D75delFs
c.223delC
1 paper
NM_001122659.3
p.R76K
c.227G>A
1 paper
NM_001122659.3
p.T77A
c.229A>G
2 papers
NM_001122659.3
p.T77M
c.230C>T
6 papers
NM_001122659.3
p.T77T
c.231G>A
1 paper
NM_001122659.3
p.A78T
c.232G>A
1 paper
NM_001122659.3
p.G79R
c.235G>A
1 paper
NM_001122659.3
p.P72L
c.215C>T
1 paper
NM_001122659.3
p.V71V
c.213G>A
1 paper
NM_001122659.3
p.V71M
c.211G>A
1 paper
NM_001122659.3
p.K56_P68del13
c.166_203del39
2 papers
NM_001122659.3
p.R83H
c.248G>A
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