Varaico: Literature-Extracted Genetic Variants

Gene:HNMT
Variant:p.A114T

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.A114T
c.340G>A
Surrounding Variants
1 paper
NM_006895.3
p.N110S
c.329A>G
1 paper
NM_006895.3
p.E109K
c.325G>A
1 paper
NM_006895.3
p.T105_S106insFs
c.315_316insC
84 papers
NM_006895.3
p.T105I
c.314C>T
1 paper
NM_006895.3
p.K104K
c.312G>A
1 paper
NM_006895.3
p.R126G
c.376A>G
1 paper
NM_006895.3
p.K130delFs
c.388delA
1 paper
NM_006895.3
p.K130*
c.388A>T
1 paper
NM_006895.3
p.E132Q
c.394G>C
1 paper
NM_006895.3
p.Q134E
c.400C>G
4 papers
NM_006895.3
p.D137D
c.411C>T
1 paper
NM_006895.3
p.H140Y
c.418C>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."