Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.Y33*

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
5 papers
NM_001379610.1
p.Y33*
c.99C>A
Surrounding Variants
1 paper
NM_001379610.1
p.Y33Y
c.99C>T
5 papers
NM_001379610.1
p.Y33*
c.99C>G
14 papers
NM_001379610.1
p.Y33insFs
c.98_99insA
1 paper
NM_001379610.1
p.N34Y
c.100A>T
1 paper
NM_001379610.1
p.Y33F
c.98A>T
1 paper
NM_001379610.1
p.N34D
c.100A>G
1 paper
NM_001379610.1
p.Y33C
c.98A>G
1 paper
NM_001379610.1
p.N34H
c.100A>C
1 paper
NM_001379610.1
p.Y33S
c.98A>C
1 paper
NM_001379610.1
p.Y33D
c.97T>G
1 paper
NM_001379610.1
p.Y33H
c.97T>C
1 paper
NM_001379610.1
p.Y33N
c.97T>A
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