Varaico: Literature-Extracted Genetic Variants

Gene:PNMT

PNMT

75 papers

RefSeq Summary

The product of this gene catalyzes the last step of the catecholamine biosynthesis pathway, which methylates norepinephrine to form epinephrine (adrenaline). The enzyme also has beta-carboline 2N-meth...

Pfam Domains

NNMT_PNMT_TEMTaa 14–279UCSCNNMT/PNMT/TEMT family

Gene Aliases

HGNC Name

phenylethanolamine N-methyltransferase

HGNC Previous Symbol

PENT

Papers
RefSeq ID
Protein change
DNA change
1–12 of 73 variants
8 papers
NM_002686.4
p.A175T
c.523G>A
7 papers
NM_002686.4
p.N9S
c.26A>G
7 papers
NM_002686.4
p.R112C
c.334C>T
5 papers
NM_002686.4
p.T98A
c.292A>G
2 papers
NM_002686.4
p.A24T
c.70G>A
2 papers
NM_002686.4
p.G54E
c.161G>A
2 papers
NM_002686.4
p.V70V
c.210G>T
2 papers
NM_002686.4
p.G137Splc
c.411-3C>T
2 papers
NM_002686.4
p.S188C
c.562A>T
2 papers
NM_002686.4
p.A275T
c.823G>A
1 paper
NM_002686.4
p.P8A
c.22C>G
1 paper
NM_002686.4
p.P14S
c.40C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."