Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.Y43*

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.Y43*
c.129T>G
Surrounding Variants
1 paper
NM_001379610.1
p.Y43Y
c.129T>C
1 paper
NM_001379610.1
p.Y43*
c.129T>A
1 paper
NM_001379610.1
p.D44Y
c.130G>T
1 paper
NM_001379610.1
p.D44H
c.130G>C
1 paper
NM_001379610.1
p.D44N
c.130G>A
1 paper
NM_001379610.1
p.Y43F
c.128A>T
1 paper
NM_001379610.1
p.Y43C
c.128A>G
1 paper
NM_001379610.1
p.Y43S
c.128A>C
1 paper
NM_001379610.1
p.Y43D
c.127T>G
1 paper
NM_001379610.1
p.Y43H
c.127T>C
1 paper
NM_001379610.1
p.Y43N
c.127T>A
1 paper
NM_001379610.1
p.D44V
c.131A>T
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