Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.*80R

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.*80R
c.238T>A
Surrounding Variants
2 papers
NM_001379610.1
p.*80insFs
c.238_239insG
1 paper
NM_001379610.1
p.*80G
c.238T>G
1 paper
NM_001379610.1
p.*80R
c.238T>C
1 paper
NM_001379610.1
p.*80L
c.239G>T
1 paper
NM_001379610.1
p.*80S
c.239G>C
2 papers
NM_001379610.1
p.*80*
c.239G>A
1 paper
NM_001379610.1
p.C79C
c.237C>T
1 paper
NM_001379610.1
p.C79W
c.237C>G
1 paper
NM_001379610.1
p.C79*
c.237C>A
8 papers
NM_001379610.1
p.C79F
c.236G>T
1 paper
NM_001379610.1
p.C79S
c.236G>C
1 paper
NM_001379610.1
p.C79Y
c.236G>A
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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."