Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.P55S

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
98 papers
NM_001379610.1
p.P55S
c.163C>T
Surrounding Variants
1 paper
NM_001379610.1
p.P55A
c.163C>G
1 paper
NM_001379610.1
p.P55T
c.163C>A
1 paper
NM_001379610.1
p.Y54delFs
c.162delA
1 paper
NM_001379610.1
p.Y54*
c.162T>G
1 paper
NM_001379610.1
p.Y54Y
c.162T>C
1 paper
NM_001379610.1
p.Y54*
c.162T>A
1 paper
NM_001379610.1
p.P55L
c.164C>T
1 paper
NM_001379610.1
p.P55R
c.164C>G
1 paper
NM_001379610.1
p.P55H
c.164C>A
1 paper
NM_001379610.1
p.P55P
c.165C>T
1 paper
NM_001379610.1
p.P55P
c.165C>G
1 paper
NM_001379610.1
p.P55P
c.165C>A
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