Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.R67R

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.R67R
c.201C>T
Surrounding Variants
1 paper
NM_001379610.1
p.R67R
c.201C>G
1 paper
NM_001379610.1
p.R67R
c.201C>A
1 paper
NM_001379610.1
p.R67L
c.200G>T
1 paper
NM_001379610.1
p.R67P
c.200G>C
14 papers
NM_001379610.1
p.R67H
c.200G>A
3 papers
NM_001379610.1
p.Q68*
c.202C>T
1 paper
NM_001379610.1
p.Q68E
c.202C>G
1 paper
NM_001379610.1
p.Q68K
c.202C>A
30 papers
NM_001379610.1
p.R67C
c.199C>T
2 papers
NM_001379610.1
p.R67G
c.199C>G
2 papers
NM_001379610.1
p.R67S
c.199C>A
1 paper
NM_001379610.1
p.Q68L
c.203A>T
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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."