Varaico: Literature-Extracted Genetic Variants

Gene:GAMT
Variant:p.T167I

GAMT

201 papers

RefSeq Summary

The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologi...

Pfam Domains

GuanidinoAc_N-MeTrfaseaa 8–236UCSCGuanidinoacetate N-methyltransferase

Gene Aliases

HGNC Name

guanidinoacetate N-methyltransferase

HGNC Alias Symbols

PIG2; TP53I2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000156.6
p.T167I
c.500C>T
Surrounding Variants
4 papers
NM_000156.6
p.L166P
c.497T>C
1 paper
NM_000156.6
p.V165V
c.495C>T
11 papers
NM_000156.6
p.C169Y
c.506G>A
1 paper
NM_000156.6
p.V165F
c.493G>T
1 paper
NM_000156.6
p.V165fs
c.493_494fs
15 papers
NM_000156.6
p.G164_V165insFs
c.492_493insG
9 papers
NM_000156.6
p.G164delFs
c.491delC
2 papers
NM_000156.6
p.G164V
c.491G>T
1 paper
NM_000156.6
p.G164D
c.491G>A
2 papers
NM_000156.6
p.N170T
c.509A>C
7 papers
NM_000156.6
p.G164fs
c.490_491fs
1 paper
NM_000156.6
p.G163A
c.488G>C
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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."