Varaico: Literature-Extracted Genetic Variants

Gene:PENK
Variant:p.C26S

PENK

72 papers

RefSeq Summary

This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the pentapeptide opioids Met-enkephalin and Leu-enkephalin, which are ...

Pfam Domains

Opiods_neuropepaa 25–70UCSCVertebrate endogenous opioids neuropeptide

Gene Aliases

HGNC Name

proenkephalin

HGNC Alias Name

preproenkephalin

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001135690.3
p.C26S
c.76T>A
Surrounding Variants
1 paper
NM_001135690.3
p.C26S
c.77G>C
1 paper
NM_001135690.3
p.R36L
c.107G>T
1 paper
NM_001135690.3
p.F45L
c.133T>C
2 papers
NM_001135690.3
p.T6I
c.17C>T
1 paper
NM_001135690.3
p.F45L
c.135C>G
1 paper
NM_001135690.3
p.F45fs
c.133_134fs
1 paper
NM_001135690.3
p.F45L
c.135C>A
1 paper
NM_001135690.3
p.F45_L46delFs
c.134_137del4
1 paper
NM_001135690.3
p.M1T
c.2T>C
1 paper
NM_001135690.3
p.M50I
c.150G>T
1 paper
NM_001135690.3
p.M50I
c.150G>C
1 paper
NM_001135690.3
p.M50I
c.150G>A
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