Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.S70Y

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.S70Y
c.209C>A
Surrounding Variants
1 paper
NM_001379610.1
p.S70F
c.209C>T
1 paper
NM_001379610.1
p.S70C
c.209C>G
1 paper
NM_001379610.1
p.S70S
c.210T>G
1 paper
NM_001379610.1
p.S70A
c.208T>G
2 papers
NM_001379610.1
p.S70S
c.210T>C
1 paper
NM_001379610.1
p.S70P
c.208T>C
1 paper
NM_001379610.1
p.S70S
c.210T>A
1 paper
NM_001379610.1
p.S70T
c.208T>A
1 paper
NM_001379610.1
p.R67_T69del0
c.199_207del9
1 paper
NM_001379610.1
p.T69T
c.207T>G
1 paper
NM_001379610.1
p.T69T
c.207T>C
1 paper
NM_001379610.1
p.T69T
c.207T>A
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