Varaico: Literature-Extracted Genetic Variants

Gene:EDNRB
Variant:p.R319Q

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.R319Q
c.956G>A
Surrounding Variants
3 papers
NM_001122659.3
p.R319P
c.956G>C
17 papers
NM_001122659.3
p.R319W
c.955C>T
NM_001201397.2
p.R409W
c.1225C>T
1 paper
NM_001122659.3
p.Q317_R318Splc
c.952-14T>C
1 paper
NM_001122659.3
p.V325V
c.975C>A
1 paper
NM_001122659.3
p.L330F
c.988C>T
1 paper
NM_001122659.3
p.L330insFs
c.988_989insC
1 paper
NM_001122659.3
p.F332C
c.995T>G
1 paper
NM_001122659.3
p.C335S
c.1003T>A
1 paper
NM_001122659.3
p.C335S
c.1004G>C
2 papers
NM_001122659.3
p.W336*
c.1007G>A
1 paper
NM_001122659.3
p.W336C
c.1008G>T
2 papers
NM_001122659.3
p.W336*
c.1008G>A
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