Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.G48G

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.G48G
c.144G>T
Surrounding Variants
1 paper
NM_001379610.1
p.G48G
c.144G>C
1 paper
NM_001379610.1
p.G48G
c.144G>A
1 paper
NM_001379610.1
p.G48V
c.143G>T
1 paper
NM_001379610.1
p.G48A
c.143G>C
13 papers
NM_001379610.1
p.G48E
c.143G>A
1 paper
NM_001379610.1
p.T49S
c.145A>T
1 paper
NM_001379610.1
p.T49A
c.145A>G
1 paper
NM_001379610.1
p.T49P
c.145A>C
1 paper
NM_001379610.1
p.G48W
c.142G>T
2 papers
NM_001379610.1
p.G48R
c.142G>C
3 papers
NM_001379610.1
p.G48R
c.142G>A
1 paper
NM_001379610.1
p.T49I
c.146C>T
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