Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.D50E

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
31 papers
NM_001379610.1
p.D50E
c.150T>G
Surrounding Variants
1 paper
NM_001379610.1
p.D50D
c.150T>C
30 papers
NM_001379610.1
p.D50E
c.150T>A
1 paper
NM_001379610.1
p.G51*
c.151G>T
1 paper
NM_001379610.1
p.G51R
c.151G>C
1 paper
NM_001379610.1
p.G51R
c.151G>A
1 paper
NM_001379610.1
p.D50V
c.149A>T
1 paper
NM_001379610.1
p.D50G
c.149A>G
1 paper
NM_001379610.1
p.D50A
c.149A>C
1 paper
NM_001379610.1
p.G51V
c.152G>T
1 paper
NM_001379610.1
p.D50Y
c.148G>T
1 paper
NM_001379610.1
p.G51A
c.152G>C
1 paper
NM_001379610.1
p.D50H
c.148G>C
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