Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.S25C

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.S25C
c.74C>G
Surrounding Variants
1 paper
NM_001379610.1
p.S25F
c.74C>T
2 papers
NM_001379610.1
p.S25Y
c.74C>A
1 paper
NM_001379610.1
p.S25A
c.73T>G
1 paper
NM_001379610.1
p.S25P
c.73T>C
2 papers
NM_001379610.1
p.S25T
c.73T>A
3 papers
NM_001379610.1
p.S25S
c.75C>T
1 paper
NM_001379610.1
p.S25S
c.75C>G
1 paper
NM_001379610.1
p.S25S
c.75C>A
1 paper
NM_001379610.1
p.L26L
c.76C>T
1 paper
NM_001379610.1
p.D24D
c.72C>T
3 papers
NM_001379610.1
p.L26V
c.76C>G
1 paper
NM_001379610.1
p.D24E
c.72C>G
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