Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.P78A

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.P78A
c.232C>G
Surrounding Variants
1 paper
NM_001379610.1
p.P78S
c.232C>T
1 paper
NM_001379610.1
p.P78T
c.232C>A
1 paper
NM_001379610.1
p.G77G
c.231G>T
1 paper
NM_001379610.1
p.G77G
c.231G>C
6 papers
NM_001379610.1
p.G77G
c.231G>A
1 paper
NM_001379610.1
p.P78L
c.233C>T
1 paper
NM_001379610.1
p.P78R
c.233C>G
1 paper
NM_001379610.1
p.P78H
c.233C>A
1 paper
NM_001379610.1
p.P78P
c.234T>G
1 paper
NM_001379610.1
p.P78P
c.234T>C
1 paper
NM_001379610.1
p.P78P
c.234T>A
1 paper
NM_001379610.1
p.G77V
c.230G>T
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