Varaico: Literature-Extracted Genetic Variants

Gene:GAMT
Variant:p.G61R

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.G61R
c.181G>C
Surrounding Variants
1 paper
NM_000156.6
p.G61R
c.181G>A
2 papers
NM_000156.6
p.G61E
c.182G>A
1 paper
NM_000156.6
p.G61Splc
c.182-2A>G
1 paper
NM_000156.6
p.R63Q
c.188G>A
1 paper
NM_000156.6
p.E66G
c.197A>G
4 papers
NM_000156.6
p.G68C
c.202G>T
1 paper
NM_000156.6
p.F69_G70delFs
c.207_208delCA
1 paper
NM_000156.6
p.M71V
c.211A>G
1 paper
NM_000156.6
p.M71R
c.212T>G
1 paper
NM_000156.6
p.M71T
c.212T>C
1 paper
NM_000156.6
p.A72S
c.214G>T
2 papers
NM_000156.6
p.A74P
c.220G>C
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