Varaico: Literature-Extracted Genetic Variants

Gene:EDNRB
Variant:p.R253*

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
8 papers
NM_001122659.3
p.R253*
c.757C>T
Surrounding Variants
1 paper
NM_001122659.3
p.R253Q
c.758G>A
1 paper
NM_001122659.3
p.Y247_Y251ins1
c.739_753dup15
1 paper
NM_001122659.3
p.I254insFs
c.760_761insCA
1 paper
NM_001122659.3
p.Y251Y
c.753T>C
2 papers
NM_001122659.3
p.C255Y
c.764G>A
4 papers
NM_001122659.3
p.V260F
c.778G>T
3 papers
NM_001122659.3
p.V260I
c.778G>A
1 paper
NM_001201397.2
p.P349delFs
c.1047delG
1 paper
NM_001122659.3
p.V260delFs
c.778delC
1 paper
NM_001122659.3
p.V260insFs
c.780dupT
1 paper
NM_001122659.3
p.I243I
c.729T>A
1 paper
NM_001122659.3
p.F240S
c.719T>C
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