Varaico: Literature-Extracted Genetic Variants

Gene:EDNRB
Variant:p.S395N

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
17 papers
NM_001201397.2
p.S395N
c.1184G>A
NM_001122659.3
p.S305N
c.914G>A
Surrounding Variants
1 paper
NM_001122659.3
p.S305R
c.915T>G
1 paper
NM_001122659.3
p.S305R
c.915T>A
1 paper
NM_001122659.3
p.S305R
c.913A>C
1 paper
NM_001122659.3
p.Q308H
c.924G>T
1 paper
NM_001122659.3
p.Q308H
c.924G>C
3 papers
NM_001122659.3
p.R302*
c.904A>T
1 paper
NM_001122659.3
p.I309insFs
c.926_927insG
2 papers
NM_001122659.3
p.I309I
c.927T>C
1 paper
NM_001122659.3
p.E299_M300del2
c.895_899del6
4 papers
NM_001122659.3
p.A310T
c.928G>A
1 paper
NM_001122659.3
p.A310_L311insFs
c.930_931insG
2 papers
NM_001122659.3
p.N312_D313insFs
c.936_937insT
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."