Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.C58R

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.C58R
c.172T>C
Surrounding Variants
1 paper
NM_001379610.1
p.C58G
c.172T>G
2 papers
NM_001379610.1
p.C58S
c.172T>A
1 paper
NM_001379610.1
p.C58F
c.173G>T
2 papers
NM_001379610.1
p.C58S
c.173G>C
1 paper
NM_001379610.1
p.C58Y
c.173G>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
8 papers
NM_001379610.1
p.C58C
c.174C>T
1 paper
NM_001379610.1
p.C58W
c.174C>G
2 papers
NM_001379610.1
p.C58*
c.174C>A
1 paper
NM_001379610.1
p.E57V
c.170A>T
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