Varaico: Literature-Extracted Genetic Variants

Gene:GAMT
Variant:p.M50L

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
5 papers
NM_000156.6
p.M50L
c.148A>C
Surrounding Variants
5 papers
NM_000156.6
p.M50L
c.148A>T
1 paper
NM_000156.6
p.Y49C
c.146A>G
1 paper
NM_000156.6
p.P48insFs
c.144dupC
9 papers
NM_000156.6
p.H51P
c.152A>C
1 paper
NM_000156.6
p.T47I
c.140C>T
1 paper
NM_000156.6
p.V41_E46del6
c.121_137del18
8 papers
NM_000156.6
p.A54P
c.160G>C
6 papers
NM_000156.6
p.W45*
c.135G>A
6 papers
NM_000156.6
p.W45*
c.134G>A
4 papers
NM_000156.6
p.W45R
c.133T>C
4 papers
NM_000156.6
p.W45R
c.133T>A
1 paper
NM_000156.6
p.H51_A54del0
c.151_162del12
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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."