Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.F7L

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.F7L
c.19T>C
Surrounding Variants
1 paper
NM_001379610.1
p.F7V
c.19T>G
1 paper
NM_001379610.1
p.F7I
c.19T>A
1 paper
NM_001379610.1
p.I6delFs
c.18delG
1 paper
NM_001379610.1
p.F7C
c.20T>G
1 paper
NM_001379610.1
p.F7S
c.20T>C
1 paper
NM_001379610.1
p.F7Y
c.20T>A
1 paper
NM_001379610.1
p.I6I
c.18C>T
1 paper
NM_001379610.1
p.I6M
c.18C>G
1 paper
NM_001379610.1
p.I6I
c.18C>A
1 paper
NM_001379610.1
p.F7L
c.21T>G
1 paper
NM_001379610.1
p.I6S
c.17T>G
1 paper
NM_001379610.1
p.F7F
c.21T>C
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