Varaico: Literature-Extracted Genetic Variants

Gene:HNMT
Variant:p.N234K

HNMT

182 papers

RefSeq Summary

In mammals, histamine is metabolized by two major pathways: N(tau)-methylation via histamine N-methyltransferase and oxidative deamination via diamine oxidase. This gene encodes the first enzyme which...

Pfam Domains

Methyltransf_23aa 32–218UCSCMethyltransferase domain

Gene Aliases

HGNC Name

histamine N-methyltransferase

HGNC Alias Symbol

HMT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006895.3
p.N234K
c.702T>A
Surrounding Variants
1 paper
NM_006895.3
p.N234K
c.702T>G
1 paper
NM_006895.3
p.N234D
c.700A>G
1 paper
NM_006895.3
p.W241C
c.723G>C
1 paper
NM_006895.3
p.W241C
c.723G>T
1 paper
NM_006895.3
p.T223A
c.667A>G
1 paper
NM_006895.3
p.E246V
c.737A>T
1 paper
NM_006895.3
p.E216K
c.646G>A
1 paper
NM_006895.3
p.Y215C
c.644A>G
1 paper
NM_006895.3
p.L213R
c.638T>G
1 paper
NM_006895.3
p.G212A
c.635G>C
1 paper
NM_006895.3
p.D257Y
c.769G>T
2 papers
NM_006895.3
p.L211P
c.632T>C
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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."