Varaico: Literature-Extracted Genetic Variants

Gene:TPSAB1
Variant:p.V76L

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.V76L
c.226G>T
Surrounding Variants
4 papers
NM_003294.4
p.V76L
c.226G>C
1 paper
NM_003294.4
p.G77E
c.230G>A
4 papers
NM_003294.4
p.A72A
c.216A>G
1 paper
NM_003294.4
p.P66P
c.198C>G
1 paper
NM_003294.4
p.C59C
c.177C>T
1 paper
NM_003294.4
p.G52D
c.155G>A
1 paper
NM_003294.4
p.G52S
c.154G>A
1 paper
NM_003294.4
p.H51H
c.153C>T
1 paper
NM_003294.4
p.S40I
c.119G>T
1 paper
NM_003294.4
p.R39K
c.116G>A
1 paper
NM_003294.4
p.L83M
c.247C>A
5 papers
NM_003294.4
p.A85T
c.253G>A
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