Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.A30V

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.A30V
c.89C>T
Surrounding Variants
1 paper
NM_001379610.1
p.A30G
c.89C>G
1 paper
NM_001379610.1
p.A30D
c.89C>A
1 paper
NM_001379610.1
p.A30S
c.88G>T
1 paper
NM_001379610.1
p.A30P
c.88G>C
1 paper
NM_001379610.1
p.A30T
c.88G>A
2 papers
NM_001379610.1
p.A30A
c.90C>T
1 paper
NM_001379610.1
p.A30A
c.90C>G
1 paper
NM_001379610.1
p.A30A
c.90C>A
1 paper
NM_001379610.1
p.A30fs
c.88_89fs
2 papers
NM_001379610.1
p.E29_A30Splc
c.88-1G>A
1 paper
NM_001379610.1
p.K31*
c.91A>T
1 paper
NM_001379610.1
p.K31E
c.91A>G
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."