Varaico: Literature-Extracted Genetic Variants

Gene:TPSD1
Variant:p.E43delFs

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
6 papers
NM_012217.3
p.E43delFs
c.127delG
Surrounding Variants
3 papers
NM_012217.3
p.Q42fs
c.124_125fs
3 papers
NM_012217.3
p.E43fs
c.127_128fs
1 paper
NM_012217.3
p.E43fs
c.127_128fs
1 paper
NM_012217.3
p.P45S
c.133C>T
1 paper
NM_012217.3
p.T36M
c.107C>T
2 papers
NM_012217.3
p.T36A
c.106A>G
6 papers
NM_012217.3
p.Q31L
c.92A>T
3 papers
NM_012217.3
p.G30V
c.89G>T
1 paper
NM_012217.3
p.G67R
c.199G>A
1 paper
NM_012217.3
p.G67R
c.199G>C
4 papers
NM_012217.3
p.L70F
c.208C>T
1 paper
NM_012217.3
p.W75C
c.225G>C
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