Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.K31*

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.K31*
c.91A>T
Surrounding Variants
1 paper
NM_001379610.1
p.K31E
c.91A>G
1 paper
NM_001379610.1
p.K31Q
c.91A>C
2 papers
NM_001379610.1
p.A30A
c.90C>T
1 paper
NM_001379610.1
p.A30A
c.90C>G
1 paper
NM_001379610.1
p.A30A
c.90C>A
2 papers
NM_001379610.1
p.K31I
c.92A>T
1 paper
NM_001379610.1
p.K31R
c.92A>G
1 paper
NM_001379610.1
p.K31T
c.92A>C
1 paper
NM_001379610.1
p.A30V
c.89C>T
1 paper
NM_001379610.1
p.A30G
c.89C>G
1 paper
NM_001379610.1
p.A30D
c.89C>A
1 paper
NM_001379610.1
p.K31N
c.93A>T
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