Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1

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
1–12 of 808 variants
438 papers
NM_001379610.1
p.N34S
c.101A>G
163 papers
NM_001379610.1
p.R65Splc
c.194+2T>C
98 papers
NM_001379610.1
p.P55S
c.163C>T
48 papers
NM_001379610.1
p.M1T
c.2T>C
37 papers
NM_001379610.1
p.L14P
c.41T>C
34 papers
NM_001379610.1
p.R65Q
c.194G>A
33 papers
NM_001379610.1
p.G19Splc
c.56-37T>C
31 papers
NM_001379610.1
p.D50E
c.150T>G
30 papers
NM_001379610.1
p.D50E
c.150T>A
30 papers
NM_001379610.1
p.R67C
c.199C>T
26 papers
NM_001379610.1
p.S18F
c.53C>T
26 papers
NM_001379610.1
p.Y54H
c.160T>C
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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."