Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.E35E

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.E35E
c.105A>G
Surrounding Variants
1 paper
NM_001379610.1
p.E35D
c.105A>T
1 paper
NM_001379610.1
p.E35D
c.105A>C
1 paper
NM_001379610.1
p.L36F
c.106C>T
1 paper
NM_001379610.1
p.L36V
c.106C>G
1 paper
NM_001379610.1
p.L36I
c.106C>A
1 paper
NM_001379610.1
p.E35V
c.104A>T
2 papers
NM_001379610.1
p.E35G
c.104A>G
1 paper
NM_001379610.1
p.E35A
c.104A>C
1 paper
NM_001379610.1
p.L36R
c.107T>G
1 paper
NM_001379610.1
p.L36P
c.107T>C
1 paper
NM_001379610.1
p.L36H
c.107T>A
1 paper
NM_001379610.1
p.E35*
c.103G>T
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