Varaico: Literature-Extracted Genetic Variants

Gene:AMT

AMT

227 papers

RefSeq Summary

This gene encodes one of four critical components of the glycine cleavage system. Mutations in this gene have been associated with glycine encephalopathy. Multiple transcript variants encoding differe...

Pfam Domains

GCV_Taa 38–296UCSCGCVT N-terminal domain
GCV_T_Caa 318–396UCSCGlycine cleavage T-protein C-terminal barrel domain

Gene Aliases

HGNC Name

aminomethyltransferase

HGNC Alias Symbols

GCST; NKH

Papers
RefSeq ID
Protein change
DNA change
1–12 of 741 variants
17 papers
NM_000481.4
p.R320H
c.959G>A
15 papers
NM_000481.4
p.H42R
c.125A>G
14 papers
NM_000481.4
p.G293Splc
c.878-1G>A
12 papers
NM_000481.4
p.G47R
c.139G>A
11 papers
NM_000481.4
p.G47R
c.139G>C
11 papers
NM_000481.4
p.D276H
c.826G>C
10 papers
NM_000481.4
p.N145I
c.434A>T
8 papers
NM_000481.4
p.E211K
c.631G>A
8 papers
NM_000481.4
p.R222C
c.664C>T
7 papers
NM_000481.4
p.S77L
c.230C>T
6 papers
NM_000481.4
p.Y61delFs
c.183delG
6 papers
NM_000481.4
p.R73C
c.217C>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."