Varaico: Literature-Extracted Genetic Variants

Gene:BDKRB1
Variant:p.L79delFs

BDKRB1

77 papers

RefSeq Summary

Bradykinin, a 9 aa peptide, is generated in pathophysiologic conditions such as inflammation, trauma, burns, shock, and allergy. The protein encoded by this gene belongs to the G-protein coupled recep...

Pfam Domains

7tm_1aa 54–312UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

bradykinin receptor B1

HGNC Alias Symbols

BKR1; B1BKR; bradyb1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000710.4
p.L79delFs
c.235delC
Surrounding Variants
1 paper
NM_000710.4
p.N78S
c.233A>G
1 paper
NM_000710.4
p.L88_G89insFs
c.264_265ins4
1 paper
NM_000710.4
p.I97F
c.289A>T
1 paper
NM_000710.4
p.L56delFs
c.167delT
1 paper
NM_000710.4
p.F101L
c.301T>C
1 paper
NM_000710.4
p.F101L
c.303T>A
1 paper
NM_000710.4
p.F101L
c.303T>G
1 paper
NM_000710.4
p.F50F
c.150C>T
1 paper
NM_000710.4
p.R111C
c.331C>T
1 paper
NM_000710.4
p.N114K
c.342C>A
1 paper
NM_000710.4
p.N114K
c.342C>G
2 papers
NM_000710.4
p.P41L
c.122C>T
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