Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.G19C

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.G19C
c.55G>T
Surrounding Variants
1 paper
NM_001379610.1
p.G19R
c.55G>C
1 paper
NM_001379610.1
p.G19S
c.55G>A
1 paper
NM_001379610.1
p.S18S
c.54T>G
1 paper
NM_001379610.1
p.S18S
c.54T>C
1 paper
NM_001379610.1
p.S18S
c.54T>A
5 papers
NM_001379610.1
p.G19Splc
c.55+1G>A
26 papers
NM_001379610.1
p.S18F
c.53C>T
1 paper
NM_001379610.1
p.S18C
c.53C>G
1 paper
NM_001379610.1
p.S18Y
c.53C>A
1 paper
NM_001379610.1
p.S18A
c.52T>G
1 paper
NM_001379610.1
p.S18P
c.52T>C
1 paper
NM_001379610.1
p.S18T
c.52T>A
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