Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.C79S

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.C79S
c.235T>A
Surrounding Variants
1 paper
NM_001379610.1
p.C79G
c.235T>G
2 papers
NM_001379610.1
p.C79R
c.235T>C
1 paper
NM_001379610.1
p.P78P
c.234T>G
1 paper
NM_001379610.1
p.P78P
c.234T>C
1 paper
NM_001379610.1
p.P78P
c.234T>A
8 papers
NM_001379610.1
p.C79F
c.236G>T
1 paper
NM_001379610.1
p.C79S
c.236G>C
1 paper
NM_001379610.1
p.C79Y
c.236G>A
1 paper
NM_001379610.1
p.C79C
c.237C>T
1 paper
NM_001379610.1
p.P78L
c.233C>T
1 paper
NM_001379610.1
p.C79W
c.237C>G
1 paper
NM_001379610.1
p.P78R
c.233C>G
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