Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.R67C

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
30 papers
NM_001379610.1
p.R67C
c.199C>T
Surrounding Variants
2 papers
NM_001379610.1
p.R67G
c.199C>G
2 papers
NM_001379610.1
p.R67S
c.199C>A
1 paper
NM_001379610.1
p.R67L
c.200G>T
1 paper
NM_001379610.1
p.R67P
c.200G>C
14 papers
NM_001379610.1
p.R67H
c.200G>A
13 papers
NM_001379610.1
p.K66N
c.198A>T
1 paper
NM_001379610.1
p.K66K
c.198A>G
12 papers
NM_001379610.1
p.K66N
c.198A>C
1 paper
NM_001379610.1
p.R67R
c.201C>T
1 paper
NM_001379610.1
p.R67R
c.201C>G
1 paper
NM_001379610.1
p.R67R
c.201C>A
1 paper
NM_001379610.1
p.K66I
c.197A>T
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