Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.G22R

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.G22R
c.64G>C
Surrounding Variants
1 paper
NM_001379610.1
p.G22*
c.64G>T
1 paper
NM_001379610.1
p.G22R
c.64G>A
1 paper
NM_001379610.1
p.T21T
c.63T>G
1 paper
NM_001379610.1
p.T21T
c.63T>C
1 paper
NM_001379610.1
p.T21T
c.63T>A
1 paper
NM_001379610.1
p.G22V
c.65G>T
17 papers
NM_001379610.1
p.G22insFs
c.65_66ins4
1 paper
NM_001379610.1
p.G22A
c.65G>C
1 paper
NM_001379610.1
p.G22E
c.65G>A
1 paper
NM_001379610.1
p.T21I
c.62C>T
1 paper
NM_001379610.1
p.T21S
c.62C>G
1 paper
NM_001379610.1
p.T21N
c.62C>A
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