Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.E29E

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.E29E
c.87G>A
Surrounding Variants
1 paper
NM_001379610.1
p.E29D
c.87G>T
1 paper
NM_001379610.1
p.E29D
c.87G>C
19 papers
NM_001379610.1
p.E29_A30Splc
c.87+1G>A
4 papers
NM_001379610.1
p.E29V
c.86A>T
1 paper
NM_001379610.1
p.E29G
c.86A>G
3 papers
NM_001379610.1
p.E29A
c.86A>C
11 papers
NM_003122.5
p.E29_A30Splc
c.87+2T>C
1 paper
NM_001379610.1
p.E29*
c.85G>T
1 paper
NM_001379610.1
p.E29Q
c.85G>C
1 paper
NM_001379610.1
p.E29K
c.85G>A
1 paper
NM_001379610.1
p.R28S
c.84A>T
1 paper
NM_001379610.1
p.R28R
c.84A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."