Varaico: Literature-Extracted Genetic Variants

Gene:GAMT
Variant:p.G131R

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.G131R
c.391G>A
Surrounding Variants
4 papers
NM_000156.6
p.G131Splc
c.392-1G>C
3 papers
NM_000156.6
p.Y134*
c.402C>G
2 papers
NM_000156.6
p.Y134*
c.402C>A
2 papers
NM_000156.6
p.D135Y
c.403G>T
2 papers
NM_000156.6
p.D135H
c.403G>C
10 papers
NM_000156.6
p.D135N
c.403G>A
1 paper
NM_000156.6
p.T136A
c.406A>G
10 papers
NM_000156.6
p.T136M
c.407C>T
1 paper
NM_000156.6
p.T136R
c.407C>G
1 paper
NM_000156.6
p.P138S
c.412C>T
1 paper
NM_000156.6
p.S140delFs
c.418_419delGA
1 paper
NM_000156.6
p.W144*
c.431G>A
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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."