Varaico: Literature-Extracted Genetic Variants

Gene:GAMT
Variant:p.E14insFs

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.E14insFs
c.41dupA
Surrounding Variants
1 paper
NM_000156.6
p.G13V
c.38G>T
1 paper
NM_000156.6
p.G13D
c.38G>A
1 paper
NM_000156.6
p.P4_P12insFs
c.11_36dup26
1 paper
NM_000156.6
p.G13S
c.37G>A
1 paper
NM_000156.6
p.E14_C16del0
c.41_46del6
1 paper
NM_000156.6
p.G13fs
c.37_38fs
3 papers
NM_000156.6
p.C16*
c.48C>A
1 paper
NM_000156.6
p.A11T
c.31G>A
1 paper
NM_000156.6
p.I9M
c.27C>G
1 paper
NM_000156.6
p.W20fs
c.58_59fs
2 papers
NM_000156.6
p.W20insFs
c.58dupT
23 papers
NM_000156.6
p.W20S
c.59G>C
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