Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.A23D

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.A23D
c.68C>A
Surrounding Variants
1 paper
NM_001379610.1
p.A23V
c.68C>T
1 paper
NM_001379610.1
p.A23G
c.68C>G
1 paper
NM_001379610.1
p.A23_D24insFs
c.69_70ins4
1 paper
NM_001379610.1
p.A23A
c.69T>G
1 paper
NM_001379610.1
p.A23A
c.69T>C
1 paper
NM_001379610.1
p.A23A
c.69T>A
1 paper
NM_001379610.1
p.A23S
c.67G>T
1 paper
NM_001379610.1
p.A23P
c.67G>C
1 paper
NM_001379610.1
p.A23T
c.67G>A
1 paper
NM_001379610.1
p.D24Y
c.70G>T
1 paper
NM_001379610.1
p.A23_D24ins1
c.69_70insTTT
12 papers
NM_001379610.1
p.A23_D24insFs
c.69_70ins4
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."