Varaico: Literature-Extracted Genetic Variants

Gene:GNMT

GNMT

67 papers

RefSeq Summary

The protein encoded by this gene is an enzyme that catalyzes the conversion of S-adenosyl-L-methionine (along with glycine) to S-adenosyl-L-homocysteine and sarcosine. This protein is found in the cyt...

Pfam Domains

Methyltransf_25aa 61–171UCSCMethyltransferase domain

Gene Aliases

HGNC Name

glycine N-methyltransferase

Papers
RefSeq ID
Protein change
DNA change
1–12 of 56 variants
7 papers
NM_018960.6
p.L49P
c.146T>C
5 papers
NM_018960.6
p.L50P
c.149T>C
4 papers
NM_018960.6
p.H177N
c.529C>A
4 papers
NM_018960.6
p.A259V
c.776C>T
2 papers
NM_018960.6
p.A23T
c.67G>A
2 papers
NM_018960.6
p.A87fs
c.259_260fs
2 papers
NM_018960.6
p.A87delFs
c.260delC
2 papers
NM_018960.6
p.R99H
c.296G>A
2 papers
NM_018960.6
p.N141S
c.422A>G
2 papers
NM_018960.6
p.G151Splc
c.451+1G>C
2 papers
NM_018960.6
p.Y276insFs
c.827_828insG
1 paper
NM_018960.6
p.M1Fs
c.3delinsACACTTGCATCCFs
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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."