Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.S16S

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.S16S
c.48T>C
Surrounding Variants
2 papers
NM_001379610.1
p.S16R
c.48T>G
2 papers
NM_001379610.1
p.S16R
c.48T>A
1 paper
NM_001379610.1
p.S16I
c.47G>T
1 paper
NM_001379610.1
p.S16T
c.47G>C
1 paper
NM_001379610.1
p.S16N
c.47G>A
1 paper
NM_001379610.1
p.L17L
c.49C>T
1 paper
NM_001379610.1
p.L17V
c.49C>G
1 paper
NM_001379610.1
p.L17I
c.49C>A
1 paper
NM_001379610.1
p.L17R
c.50T>G
1 paper
NM_001379610.1
p.L17P
c.50T>C
1 paper
NM_001379610.1
p.L17Q
c.50T>A
1 paper
NM_001379610.1
p.S16C
c.46A>T
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