Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.R65Splc

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
163 papers
NM_001379610.1
p.R65Splc
c.194+2T>C
Surrounding Variants
1 paper
NM_001379610.1
p.R65Splc
c.194+2T>A
4 papers
NM_001379610.1
p.R65Splc
c.194+1G>A
1 paper
NM_001379610.1
p.R65L
c.194G>T
1 paper
NM_001379610.1
p.R65P
c.194G>C
16 papers
NM_001379610.1
p.R65Q
c.194G>A
1 paper
NM_001379610.1
p.N64_R65delFs
c.190_193del4
3 papers
NM_001379610.1
p.R65Splc
c.194+5G>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.R65R
c.193C>A
1 paper
NM_001379610.1
p.N64K
c.192T>G
1 paper
NM_001379610.1
p.N64N
c.192T>C
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