Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.E57G

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.E57G
c.170A>G
Surrounding Variants
1 paper
NM_001379610.1
p.E57V
c.170A>T
1 paper
NM_001379610.1
p.E57A
c.170A>C
1 paper
NM_001379610.1
p.E57*
c.169G>T
1 paper
NM_001379610.1
p.E57Q
c.169G>C
1 paper
NM_001379610.1
p.E57K
c.169G>A
1 paper
NM_001379610.1
p.E57D
c.171A>T
1 paper
NM_001379610.1
p.E57E
c.171A>G
1 paper
NM_001379610.1
p.E57D
c.171A>C
1 paper
NM_001379610.1
p.C58G
c.172T>G
1 paper
NM_001379610.1
p.N56K
c.168T>G
1 paper
NM_001379610.1
p.C58R
c.172T>C
1 paper
NM_001379610.1
p.N56N
c.168T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."