Varaico: Literature-Extracted Genetic Variants

Gene:TPSB2
Variant:p.A239V

TPSB2

40 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 beta 2

HGNC Previous Name

tryptase beta 2 (gene/pseudogene)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_024164.6
p.A239V
c.716C>T
Surrounding Variants
1 paper
NM_024164.6
p.V241G
c.722T>G
1 paper
NM_024164.6
p.G245R
c.733G>C
1 paper
NM_024164.6
p.G245D
c.734G>A
1 paper
NM_024164.6
p.S224S
c.672C>T
1 paper
NM_024164.6
p.R259S
c.775C>A
1 paper
NM_024164.6
p.H269Q
c.807C>G
1 paper
NM_024164.6
p.H269Q
c.807C>A
3 papers
NM_024164.6
p.V205I
c.613G>A
1 paper
NM_024164.6
p.P174P
c.522T>C
2 papers
NM_024164.6
p.R168P
c.503G>C
1 paper
NM_024164.6
p.M153fs
c.457_458fs
1 paper
NM_024164.6
p.M153fs
c.457_458fs
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