Varaico: Literature-Extracted Genetic Variants

Gene:EDNRB
Variant:p.A310T

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
4 papers
NM_001122659.3
p.A310T
c.928G>A
Surrounding Variants
2 papers
NM_001122659.3
p.I309I
c.927T>C
1 paper
NM_001122659.3
p.A310_L311insFs
c.930_931insG
1 paper
NM_001122659.3
p.I309insFs
c.926_927insG
1 paper
NM_001122659.3
p.Q308H
c.924G>T
1 paper
NM_001122659.3
p.Q308H
c.924G>C
2 papers
NM_001122659.3
p.N312_D313insFs
c.936_937insT
1 paper
NM_001122659.3
p.D313insFs
c.938_939insA
1 paper
NM_001122659.3
p.D313D
c.939T>C
1 paper
NM_001122659.3
p.S305R
c.915T>G
1 paper
NM_001122659.3
p.S305R
c.915T>A
17 papers
NM_001201397.2
p.S395N
c.1184G>A
NM_001122659.3
p.S305N
c.914G>A
1 paper
NM_001122659.3
p.L315L
c.943C>T
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