Varaico: Literature-Extracted Genetic Variants

Gene:TPSB2
Variant:p.N132K

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
1 paper
NM_024164.6
p.N132K
c.396C>G
Surrounding Variants
1 paper
NM_024164.6
p.N132K
c.396C>A
3 papers
NM_024164.6
p.P151insFs
c.452dupC
1 paper
NM_024164.6
p.P151fs
c.451_452fs
1 paper
NM_024164.6
p.M153fs
c.457_458fs
1 paper
NM_024164.6
p.M153fs
c.457_458fs
1 paper
NM_024164.6
p.P103P
c.309G>A
1 paper
NM_024164.6
p.P103L
c.308C>T
1 paper
NM_024164.6
p.Q98*
c.292C>T
3 papers
NM_024164.6
p.A85T
c.253G>A
2 papers
NM_024164.6
p.R168P
c.503G>C
1 paper
NM_024164.6
p.P174P
c.522T>C
1 paper
NM_024164.6
p.V76L
c.226G>T
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