Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.L9L

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.L9L
c.27C>G
Surrounding Variants
1 paper
NM_001379610.1
p.L9L
c.27C>T
1 paper
NM_001379610.1
p.L9L
c.27C>A
4 papers
NM_001379610.1
p.L9R
c.26T>G
1 paper
NM_001379610.1
p.L9P
c.26T>C
1 paper
NM_001379610.1
p.L9H
c.26T>A
1 paper
NM_001379610.1
p.S10fs
c.28_29fs
1 paper
NM_001379610.1
p.S10C
c.28A>T
1 paper
NM_001379610.1
p.S10G
c.28A>G
1 paper
NM_001379610.1
p.S10R
c.28A>C
22 papers
NM_001379610.1
p.L9delFs
c.27delG
1 paper
NM_001379610.1
p.S10I
c.29G>T
1 paper
NM_001379610.1
p.S10T
c.29G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."