Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.F62L

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.F62L
c.186T>G
Surrounding Variants
1 paper
NM_001379610.1
p.F62F
c.186T>C
1 paper
NM_001379610.1
p.F62L
c.186T>A
1 paper
NM_001379610.1
p.F62C
c.185T>G
1 paper
NM_001379610.1
p.F62S
c.185T>C
1 paper
NM_001379610.1
p.F62Y
c.185T>A
1 paper
NM_001379610.1
p.E63*
c.187G>T
1 paper
NM_001379610.1
p.E63Q
c.187G>C
1 paper
NM_001379610.1
p.E63K
c.187G>A
1 paper
NM_001379610.1
p.F62V
c.184T>G
1 paper
NM_001379610.1
p.F62L
c.184T>C
1 paper
NM_001379610.1
p.F62I
c.184T>A
1 paper
NM_001379610.1
p.E63V
c.188A>T
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