Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.L15L

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.L15L
c.43T>C
Surrounding Variants
1 paper
NM_001379610.1
p.L15V
c.43T>G
1 paper
NM_001379610.1
p.L15M
c.43T>A
1 paper
NM_001379610.1
p.L15W
c.44T>G
1 paper
NM_001379610.1
p.L15S
c.44T>C
1 paper
NM_001379610.1
p.L15*
c.44T>A
1 paper
NM_001379610.1
p.L14L
c.42G>T
1 paper
NM_001379610.1
p.L14L
c.42G>C
1 paper
NM_001379610.1
p.L14L
c.42G>A
12 papers
NM_001379610.1
p.L14R
c.41T>G
37 papers
NM_001379610.1
p.L14P
c.41T>C
1 paper
NM_001379610.1
p.L14Q
c.41T>A
2 papers
NM_001379610.1
p.L14delFs
c.40delG
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