Varaico: Literature-Extracted Genetic Variants

Gene:TPSD1
Variant:p.A23fs

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.A23fs
c.67_68fs
Surrounding Variants
1 paper
NM_012217.3
p.P22P
c.66G>C
4 papers
NM_012217.3
p.P22R
c.65C>G
2 papers
NM_012217.3
p.P22delins
c.65_66delinsGC
1 paper
NM_012217.3
p.V25A
c.74T>C
1 paper
NM_012217.3
p.A15V
c.44C>T
1 paper
NM_012217.3
p.L13L
c.39G>T
1 paper
NM_012217.3
p.S10N
c.29G>A
1 paper
NM_012217.3
p.L2delFs
c.6delC
1 paper
NM_012217.3
p.L2I
c.4C>A
3 papers
NM_012217.3
p.G30V
c.89G>T
6 papers
NM_012217.3
p.Q31L
c.92A>T
2 papers
NM_012217.3
p.T36A
c.106A>G
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