Varaico: Literature-Extracted Genetic Variants

Gene:GAMT
Variant:p.S200T

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_138924.3
p.S200T
c.598T>A
Surrounding Variants
1 paper
NM_138924.3
p.G199insFs
c.595dupG
1 paper
NM_138924.3
p.S203N
c.608G>A
1 paper
NM_138924.3
p.R192C
c.574C>T
3 papers
NM_000156.6
p.M188I
c.564G>T
3 papers
NM_000156.6
p.M188I
c.564G>C
3 papers
NM_000156.6
p.M188I
c.564G>A
1 paper
NM_000156.6
p.I185_I187Fs
c.554_559delinsTGTGFs
1 paper
NM_138924.3
p.G214fs
c.640_641fs
1 paper
NM_000156.6
p.K181N
c.543G>T
1 paper
NM_000156.6
p.K181N
c.543G>C
1 paper
NM_138924.3
p.G214_L218delFs
c.640_653del14
8 papers
NM_000156.6
p.E176insFs
c.526dupG
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