Varaico: Literature-Extracted Genetic Variants

Gene:GAMT
Variant:p.I152M

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.I152M
c.456C>G
Surrounding Variants
1 paper
NM_000156.6
p.F149S
c.446T>C
2 papers
NM_000156.6
p.Q148insFs
c.442dupC
1 paper
NM_000156.6
p.Q148fs
c.442_443fs
2 papers
NM_000156.6
p.H147Y
c.439C>T
1 paper
NM_000156.6
p.T146insFs
c.438dupA
1 paper
NM_000156.6
p.H147fs
c.439_440fs
2 papers
NM_000156.6
p.T146T
c.438A>G
1 paper
NM_000156.6
p.T146R
c.437C>G
1 paper
NM_000156.6
p.W144*
c.432G>A
1 paper
NM_000156.6
p.W144*
c.431G>A
1 paper
NM_000156.6
p.T143_W144del1
c.428_430delAGG
1 paper
NM_000156.6
p.S140delFs
c.418_419delGA
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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."