Varaico: Literature-Extracted Genetic Variants

Gene:GAMT
Variant:p.W20S

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
23 papers
NM_000156.6
p.W20S
c.59G>C
Surrounding Variants
2 papers
NM_000156.6
p.W20insFs
c.58dupT
1 paper
NM_000156.6
p.W20fs
c.58_59fs
1 paper
NM_000156.6
p.A22fs
c.64_65fs
1 paper
NM_000156.6
p.A22G
c.65C>G
7 papers
NM_000156.6
p.A22insFs
c.64dupG
1 paper
NM_000156.6
p.A23insFs
c.67dupG
1 paper
NM_000156.6
p.A23fs
c.67_68fs
1 paper
NM_000156.6
p.A23A
c.69G>A
3 papers
NM_000156.6
p.C16*
c.48C>A
1 paper
NM_000156.6
p.E14_C16del0
c.41_46del6
1 paper
NM_000156.6
p.E14insFs
c.41dupA
1 paper
NM_000156.6
p.A26V
c.77C>T
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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."