Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.C39G

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.C39G
c.115T>G
Surrounding Variants
1 paper
NM_001379610.1
p.C39R
c.115T>C
1 paper
NM_001379610.1
p.C39S
c.115T>A
1 paper
NM_001379610.1
p.C39F
c.116G>T
1 paper
NM_001379610.1
p.C39insFs
c.116_117insT
1 paper
NM_001379610.1
p.C39S
c.116G>C
1 paper
NM_001379610.1
p.C39Y
c.116G>A
1 paper
NM_001379610.1
p.G38G
c.114A>T
1 paper
NM_001379610.1
p.G38G
c.114A>G
1 paper
NM_001379610.1
p.G38G
c.114A>C
1 paper
NM_001379610.1
p.G38V
c.113G>T
1 paper
NM_001379610.1
p.G38A
c.113G>C
1 paper
NM_001379610.1
p.G38E
c.113G>A
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