Varaico: Literature-Extracted Genetic Variants

Gene:PENK
Variant:p.R236G

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.R236G
c.706C>G
Surrounding Variants
1 paper
NM_001135690.3
p.R236H
c.707G>A
1 paper
NM_001135690.3
p.A240delFs
c.718delC
1 paper
NM_001135690.3
p.Y230*
c.690T>G
1 paper
NM_001135690.3
p.Y230*
c.690T>A
1 paper
NM_001135690.3
p.D244D
c.732C>T
1 paper
NM_001135690.3
p.G247D
c.740G>A
1 paper
NM_001135690.3
p.S249C
c.745A>T
1 paper
NM_001135690.3
p.E221A
c.662A>C
1 paper
NM_001135690.3
p.R219H
c.656G>A
1 paper
NM_001135690.3
p.R216T
c.647G>C
1 paper
NM_001135690.3
p.E256K
c.766G>A
1 paper
NM_001135690.3
p.R215Fs
c.644delinsAGFs
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