Varaico: Literature-Extracted Genetic Variants

Gene:TPSD1
Variant:p.L77L

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
2 papers
NM_012217.3
p.L77L
c.231A>G
Surrounding Variants
1 paper
NM_012217.3
p.A79T
c.235G>A
1 paper
NM_012217.3
p.W75C
c.225G>C
1 paper
NM_012217.3
p.W75C
c.225G>T
1 paper
NM_012217.3
p.V83M
c.247G>A
3 papers
NM_012217.3
p.V83L
c.247G>C
3 papers
NM_012217.3
p.V83L
c.247G>T
1 paper
NM_012217.3
p.E84G
c.251A>G
1 paper
NM_012217.3
p.P85R
c.254C>G
4 papers
NM_012217.3
p.L70F
c.208C>T
1 paper
NM_012217.3
p.G67R
c.199G>A
1 paper
NM_012217.3
p.G67R
c.199G>C
1 paper
NM_012217.3
p.P45S
c.133C>T
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