Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.V59V

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.V59V
c.177G>C
Surrounding Variants
1 paper
NM_001379610.1
p.V59V
c.177G>T
1 paper
NM_001379610.1
p.V59V
c.177G>A
1 paper
NM_001379610.1
p.L60V
c.178T>G
1 paper
NM_001379610.1
p.V59G
c.176T>G
1 paper
NM_001379610.1
p.L60L
c.178T>C
1 paper
NM_001379610.1
p.V59A
c.176T>C
1 paper
NM_001379610.1
p.L60I
c.178T>A
1 paper
NM_001379610.1
p.V59E
c.176T>A
3 papers
NM_001379610.1
p.V59delFs
c.177delC
1 paper
NM_001379610.1
p.L60fs
c.178_179fs
1 paper
NM_001379610.1
p.L60*
c.179T>G
1 paper
NM_001379610.1
p.L60S
c.179T>C
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