Varaico: Literature-Extracted Genetic Variants

Gene:PENK
Variant:p.Q78K

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
4 papers
NM_001135690.3
p.Q78K
c.232C>A
Surrounding Variants
1 paper
NM_001135690.3
p.K89N
c.267A>T
1 paper
NM_001135690.3
p.E53*
c.157G>T
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
1 paper
NM_001135690.3
p.R106M
c.317G>T
1 paper
NM_001135690.3
p.R106K
c.317G>A
1 paper
NM_001135690.3
p.K134_G137del4
c.400_410del12
2 papers
NM_001135690.3
p.N152D
c.454A>G
1 paper
NM_001135690.3
p.T163_G164delFs
c.489_490delCT
1 paper
NM_001135690.3
p.D165fs
c.493_494fs
1 paper
NM_001135690.3
p.F189S
c.566T>C
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