Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.T40T

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.T40T
c.120C>T
Surrounding Variants
1 paper
NM_001379610.1
p.T40T
c.120C>G
1 paper
NM_001379610.1
p.T40T
c.120C>A
1 paper
NM_001379610.1
p.T40I
c.119C>T
1 paper
NM_001379610.1
p.T40S
c.119C>G
1 paper
NM_001379610.1
p.T40N
c.119C>A
8 papers
NM_001379610.1
p.K41*
c.121A>T
1 paper
NM_001379610.1
p.K41E
c.121A>G
1 paper
NM_001379610.1
p.K41Q
c.121A>C
1 paper
NM_001379610.1
p.K41M
c.122A>T
1 paper
NM_001379610.1
p.T40S
c.118A>T
2 papers
NM_001379610.1
p.K41R
c.122A>G
1 paper
NM_001379610.1
p.T40A
c.118A>G
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