Varaico: Literature-Extracted Genetic Variants

Gene:AMT
Variant:p.A328insFs

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
Selected Variant
2 papers
NM_000481.4
p.A328insFs
c.982_983insG
Surrounding Variants
1 paper
NM_000481.4
p.A328Fs
c.982_983delinsTFs
1 paper
NM_000481.4
p.A328delFs
c.982delC
2 papers
NM_000481.4
p.A328fs
c.982_983fs
3 papers
NM_000481.4
p.A328fs
c.982_983fs
3 papers
NM_000481.4
p.P329T
c.985C>A
2 papers
NM_000481.4
p.P329L
c.986C>T
2 papers
NM_000481.4
p.G327W
c.979G>T
1 paper
NM_000481.4
p.E326delFs
c.977delT
1 paper
NM_000481.4
p.E326fs
c.976_977fs
1 paper
NM_000481.4
p.R331W
c.991C>T
1 paper
NM_000481.4
p.R331Q
c.992G>A
1 paper
NM_000481.4
p.C325G
c.973T>G
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