Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.S18T

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
1 paper
NM_001379610.1
p.S18T
c.52T>A
Surrounding Variants
1 paper
NM_001379610.1
p.S18A
c.52T>G
1 paper
NM_001379610.1
p.S18P
c.52T>C
26 papers
NM_001379610.1
p.S18F
c.53C>T
1 paper
NM_001379610.1
p.S18C
c.53C>G
1 paper
NM_001379610.1
p.S18Y
c.53C>A
1 paper
NM_001379610.1
p.L17L
c.51A>T
1 paper
NM_001379610.1
p.L17L
c.51A>G
1 paper
NM_001379610.1
p.L17L
c.51A>C
1 paper
NM_001379610.1
p.S18S
c.54T>G
1 paper
NM_001379610.1
p.L17R
c.50T>G
1 paper
NM_001379610.1
p.S18S
c.54T>C
1 paper
NM_001379610.1
p.L17P
c.50T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."