Varaico: Literature-Extracted Genetic Variants

Gene:EDNRB
Variant:p.A63S

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.A63S
c.187G>T
Surrounding Variants
1 paper
NM_001122659.3
p.L62L
c.186G>A
1 paper
NM_001122659.3
p.L62R
c.185T>G
1 paper
NM_001122659.3
p.L62Q
c.185T>A
2 papers
NM_001122659.3
p.R64L
c.191G>T
1 paper
NM_001122659.3
p.S61I
c.182G>T
1 paper
NM_001122659.3
p.N59_R64delFs
c.176_191del16
1 paper
NM_001201397.2
p.S155fs
c.463_464fs
3 papers
NM_001122659.3
p.A60T
c.178G>A
1 paper
NM_001122659.3
p.N59K
c.177C>A
2 papers
NM_001122659.3
p.L66F
c.198G>T
1 paper
NM_001122659.3
p.A67ins1
c.200_201insTCC
1 paper
NM_001122659.3
p.K56delFs
c.168delC
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