Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.K2M

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.K2M
c.5A>T
Surrounding Variants
1 paper
NM_001379610.1
p.K2R
c.5A>G
1 paper
NM_001379610.1
p.K2T
c.5A>C
1 paper
NM_001379610.1
p.K2N
c.6G>T
2 papers
NM_001379610.1
p.K2N
c.6G>C
2 papers
NM_001379610.1
p.K2K
c.6G>A
1 paper
NM_001379610.1
p.K2*
c.4A>T
1 paper
NM_001379610.1
p.K2E
c.4A>G
1 paper
NM_001379610.1
p.K2Q
c.4A>C
2 papers
NM_001379610.1
p.V3L
c.7G>T
2 papers
NM_001379610.1
p.M1I
c.3G>T
1 paper
NM_001379610.1
p.V3L
c.7G>C
1 paper
NM_001379610.1
p.M1I
c.3G>C
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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."