Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.M1T

SPINK1

590 papers

RefSeq Summary

The protein encoded by this gene is a trypsin inhibitor, which is secreted from pancreatic acinar cells into pancreatic juice. It is thought to function in the prevention of trypsin-catalyzed prematur...

Pfam Domains

Kazal_1aa 31–79UCSCKazal-type serine protease inhibitor domain

Gene Aliases

HGNC Name

serine peptidase inhibitor Kazal type 1

HGNC Alias Symbols

Spink3; PCTT; PSTI; TATI

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
48 papers
NM_001379610.1
p.M1T
c.2T>C
Surrounding Variants
5 papers
NM_001379610.1
p.M1R
c.2T>G
1 paper
NM_001379610.1
p.M1K
c.2T>A
2 papers
NM_001379610.1
p.M1I
c.3G>T
1 paper
NM_001379610.1
p.M1I
c.3G>C
1 paper
NM_001379610.1
p.M1I
c.3G>A
2 papers
NM_001379610.1
p.M1L
c.1A>T
2 papers
NM_001379610.1
p.M1V
c.1A>G
1 paper
NM_001379610.1
p.M1L
c.1A>C
1 paper
NM_001379610.1
p.K2*
c.4A>T
1 paper
NM_001379610.1
p.K2E
c.4A>G
1 paper
NM_001379610.1
p.K2Q
c.4A>C
1 paper
NM_001379610.1
p.K2M
c.5A>T
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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."