Varaico: Literature-Extracted Genetic Variants

Gene:HNMT
Variant:p.G187R

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.G187R
c.559G>C
Surrounding Variants
1 paper
NM_006895.3
p.G187R
c.559G>A
1 paper
NM_006895.3
p.Y198N
c.592T>A
5 papers
NM_006895.3
p.I199V
c.595A>G
2 papers
NM_006895.3
p.L208V
c.622C>G
7 papers
NM_006895.3
p.L208P
c.623T>C
2 papers
NM_006895.3
p.L208R
c.623T>G
2 papers
NM_006895.3
p.L211P
c.632T>C
1 paper
NM_006895.3
p.G212A
c.635G>C
1 paper
NM_006895.3
p.L213R
c.638T>G
1 paper
NM_006895.3
p.Y215C
c.644A>G
1 paper
NM_006895.3
p.E216K
c.646G>A
1 paper
NM_006895.3
p.T223A
c.667A>G
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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."