Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.N52K

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.N52K
c.156T>A
Surrounding Variants
1 paper
NM_001379610.1
p.N52K
c.156T>G
1 paper
NM_001379610.1
p.N52N
c.156T>C
2 papers
NM_001379610.1
p.T53S
c.157A>T
1 paper
NM_001379610.1
p.N52I
c.155A>T
2 papers
NM_001379610.1
p.N52S
c.155A>G
1 paper
NM_001379610.1
p.T53A
c.157A>G
1 paper
NM_001379610.1
p.T53P
c.157A>C
1 paper
NM_001379610.1
p.N52T
c.155A>C
1 paper
NM_001379610.1
p.T53I
c.158C>T
2 papers
NM_001379610.1
p.T53S
c.158C>G
2 papers
NM_001379610.1
p.T53N
c.158C>A
1 paper
NM_001379610.1
p.N52Y
c.154A>T
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