Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.C32C

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.C32C
c.96T>C
Surrounding Variants
1 paper
NM_001379610.1
p.C32W
c.96T>G
1 paper
NM_001379610.1
p.C32*
c.96T>A
1 paper
NM_001379610.1
p.Y33D
c.97T>G
1 paper
NM_001379610.1
p.Y33H
c.97T>C
1 paper
NM_001379610.1
p.Y33N
c.97T>A
1 paper
NM_001379610.1
p.C32F
c.95G>T
1 paper
NM_001379610.1
p.C32S
c.95G>C
1 paper
NM_001379610.1
p.C32Y
c.95G>A
1 paper
NM_001379610.1
p.C32G
c.94T>G
1 paper
NM_001379610.1
p.C32R
c.94T>C
1 paper
NM_001379610.1
p.C32S
c.94T>A
1 paper
NM_001379610.1
p.Y33F
c.98A>T
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