Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.R65P

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.R65P
c.194G>C
Surrounding Variants
1 paper
NM_001379610.1
p.R65L
c.194G>T
34 papers
NM_001379610.1
p.R65Q
c.194G>A
1 paper
NM_001379610.1
p.R65R
c.195G>T
1 paper
NM_001379610.1
p.R65R
c.195G>C
1 paper
NM_001379610.1
p.R65R
c.195G>A
5 papers
NM_001379610.1
p.R65W
c.193C>T
1 paper
NM_001379610.1
p.R65G
c.193C>G
1 paper
NM_001379610.1
p.K66*
c.196A>T
1 paper
NM_001379610.1
p.K66E
c.196A>G
1 paper
NM_001379610.1
p.K66Q
c.196A>C
1 paper
NM_001379610.1
p.K66fs
c.196_197fs
1 paper
NM_001379610.1
p.K66I
c.197A>T
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