Varaico: Literature-Extracted Genetic Variants

Gene:PENK
Variant:p.D165fs

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.D165fs
c.493_494fs
Surrounding Variants
1 paper
NM_001135690.3
p.T163_G164delFs
c.489_490delCT
2 papers
NM_001135690.3
p.N152D
c.454A>G
1 paper
NM_001135690.3
p.F189S
c.566T>C
1 paper
NM_001135690.3
p.M190V
c.568A>G
1 paper
NM_001135690.3
p.R191K
c.572G>A
1 paper
NM_001135690.3
p.K134_G137del4
c.400_410del12
1 paper
NM_001135690.3
p.K194_E200delFs
c.581_600del20
1 paper
NM_001135690.3
p.A203T
c.607G>A
3 papers
NM_001135690.3
p.R209Q
c.626G>A
1 paper
NM_001135690.3
p.R215Fs
c.644delinsAGFs
1 paper
NM_001135690.3
p.R216T
c.647G>C
1 paper
NM_001135690.3
p.R219H
c.656G>A
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