Varaico: Literature-Extracted Genetic Variants

Gene:TPSAB1
Variant:p.V205I

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
2 papers
NM_003294.4
p.V205I
c.613G>A
Surrounding Variants
1 paper
NM_003294.4
p.A196S
c.586G>T
1 paper
NM_003294.4
p.T215S
c.644C>G
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.H186Y
c.556C>T
2 papers
NM_003294.4
p.P174P
c.522T>C
2 papers
NM_003294.4
p.P170S
c.508C>T
4 papers
NM_003294.4
p.R168P
c.503G>C
1 paper
NM_003294.4
p.W244*
c.731G>A
1 paper
NM_003294.4
p.W244*
c.732G>A
2 papers
NM_003294.4
p.G245D
c.734G>A
1 paper
NM_003294.4
p.E246K
c.736G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."