Varaico: Literature-Extracted Genetic Variants

Gene:BDKRB2
Variant:p.R14H

BDKRB2

112 papers

RefSeq Summary

This gene encodes a receptor for bradykinin. The 9 aa bradykinin peptide elicits many responses including vasodilation, edema, smooth muscle spasm and pain fiber stimulation. Bradykinin is released up...

Pfam Domains

7tm_1aa 74–332UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

bradykinin receptor B2

HGNC Alias Symbol

BK-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001379692.1
p.R14H
c.41G>A
Surrounding Variants
9 papers
NM_001379692.1
p.R14C
c.40C>T
1 paper
NM_001379692.1
p.T20N
c.59C>A
1 paper
NM_001379692.1
p.S8insFs
c.23_24insT
2 papers
NM_001379692.1
p.T21M
c.62C>T
3 papers
NM_001379692.1
p.S3Y
c.8C>A
3 papers
NM_001379692.1
p.S3C
c.8C>G
1 paper
NM_001379692.1
p.S25Splc
c.75-59G>A
1 paper
NM_001379692.1
p.A26T
c.76G>A
1 paper
NM_001379692.1
p.A26A
c.78C>T
1 paper
NM_001379692.1
p.L33_N39delFs
c.97_115del19
1 paper
NM_001379692.1
p.F42L
c.126T>A
1 paper
NM_001379692.1
p.A43V
c.128C>T
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