Varaico: Literature-Extracted Genetic Variants

Gene:TPSAB1
Variant:p.R168P

TPSAB1

68 papers

RefSeq Summary

Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endo...

Pfam Domains

Trypsinaa 31–267UCSCTrypsin

Gene Aliases

HGNC Name

tryptase alpha/beta 1

HGNC Previous Symbols

TPSB1; TPS1; TPS2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_003294.4
p.R168P
c.503G>C
Surrounding Variants
2 papers
NM_003294.4
p.P170S
c.508C>T
2 papers
NM_003294.4
p.P174P
c.522T>C
1 paper
NM_003294.4
p.H186Y
c.556C>T
1 paper
NM_003294.4
p.A196S
c.586G>T
2 papers
NM_003294.4
p.V205I
c.613G>A
1 paper
NM_003294.4
p.T215S
c.644C>G
1 paper
NM_003294.4
p.D162N
c.484G>A
1 paper
NM_003294.4
p.S219S
c.657A>C
1 paper
NM_003294.4
p.Q221K
c.661C>A
1 paper
NM_003294.4
p.W156C
c.468G>C
1 paper
NM_003294.4
p.W156C
c.468G>T
1 paper
NM_003294.4
p.P151insFs
c.451_452insC
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