Varaico: Literature-Extracted Genetic Variants

Gene:TPSAB1
Variant:p.H136R

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
6 papers
NM_003294.4
p.H136R
c.407A>G
Surrounding Variants
1 paper
NM_003294.4
p.H138Y
c.412C>T
4 papers
NM_003294.4
p.V133I
c.397G>A
8 papers
NM_003294.4
p.N132K
c.396C>A
9 papers
NM_003294.4
p.N132K
c.396C>G
1 paper
NM_003294.4
p.V140I
c.418G>A
1 paper
NM_003294.4
p.V140V
c.420C>T
2 papers
NM_003294.4
p.T141A
c.421A>G
6 papers
NM_003294.4
p.T141I
c.422C>T
1 paper
NM_003294.4
p.T141T
c.423C>G
2 papers
NM_003294.4
p.P130P
c.390G>C
1 paper
NM_003294.4
p.E129K
c.385G>A
1 paper
NM_003294.4
p.E128K
c.382G>A
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