Varaico: Literature-Extracted Genetic Variants

Gene:TPSD1
Variant:p.R94S

TPSD1

66 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 38–241UCSCTrypsin

Gene Aliases

HGNC Name

tryptase delta 1

HGNC Alias Names

mMCP-7-like II; mMCP-7-like I; MMCP-7-LIKE-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012217.3
p.R94S
c.282G>C
Surrounding Variants
1 paper
NM_012217.3
p.R94S
c.282G>T
9 papers
NM_012217.3
p.A92T
c.274G>A
4 papers
NM_012217.3
p.I87V
c.259A>G
1 paper
NM_012217.3
p.Q105*
c.313C>T
1 paper
NM_012217.3
p.P110P
c.330G>A
1 paper
NM_012217.3
p.H117R
c.350A>G
1 paper
NM_012217.3
p.T125T
c.375C>T
1 paper
NM_012217.3
p.G126G
c.378G>A
2 papers
NM_012217.3
p.A127V
c.380C>T
1 paper
NM_012217.3
p.D128D
c.384C>T
1 paper
NM_012217.3
p.E133*
c.397G>T
1 paper
NM_012217.3
p.E135G
c.404A>G
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."