Varaico: Literature-Extracted Genetic Variants

Gene:BDKRB2
Variant:p.R252L

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.R252L
c.755G>T
Surrounding Variants
1 paper
NM_001379692.1
p.R252R
c.756G>C
2 papers
NM_001379692.1
p.L251P
c.752T>C
1 paper
NM_001379692.1
p.L251L
c.751C>T
1 paper
NM_001379692.1
p.N254fs
c.760_761fs
1 paper
NM_001379692.1
p.T264_E265ins4
c.790_794ins12
1 paper
NM_001379692.1
p.E265E
c.795G>A
1 paper
NM_001379692.1
p.T269A
c.805A>G
1 paper
NM_001379692.1
p.V230V
c.690C>T
1 paper
NM_001379692.1
p.I280_C282del0
c.838_846del9
1 paper
NM_001379692.1
p.C282Y
c.845G>A
1 paper
NM_001379692.1
p.S217insFs
c.649_650insG
1 paper
NM_001379692.1
p.P216Q
c.647C>A
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