Varaico: Literature-Extracted Genetic Variants

Gene:BDKRB2
Variant:p.W344*

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.W344*
c.1031G>A
Surrounding Variants
1 paper
NM_001379692.1
p.W344*
c.1032G>A
1 paper
NM_001379692.1
p.R338C
c.1012C>T
1 paper
NM_001379692.1
p.K337R
c.1010A>G
1 paper
NM_001379692.1
p.C351Y
c.1052G>A
3 papers
NM_001379692.1
p.G354E
c.1061G>A
1 paper
NM_001379692.1
p.P360L
c.1079C>T
1 paper
NM_001379692.1
p.I361F
c.1081A>T
1 paper
NM_001379692.1
p.F319L
c.957C>A
1 paper
NM_001379692.1
p.F319L
c.957C>G
1 paper
NM_001379692.1
p.F319L
c.955T>C
1 paper
NM_001379692.1
p.R371Q
c.1112G>A
2 papers
NM_001379692.1
p.V376M
c.1126G>A
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