Varaico: Literature-Extracted Genetic Variants

Gene:GAMT
Variant:p.Q97_R98insFs

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
2 papers
NM_000156.6
p.Q97_R98insFs
c.291_292ins4
Surrounding Variants
1 paper
NM_000156.6
p.Q97fs
c.289_290fs
4 papers
NM_000156.6
p.Q97delFs
c.289delG
2 papers
NM_000156.6
p.Q97fs
c.289_290fs
2 papers
NM_000156.6
p.Q97*
c.289C>T
1 paper
NM_000156.6
p.V95ins0
c.283_285dupGTC
1 paper
NM_000156.6
p.R100W
c.298C>T
1 paper
NM_000156.6
p.V95I
c.283G>A
1 paper
NM_000156.6
p.D93_V95Fs
c.278_283delinsCTCGATGCACFs
1 paper
NM_000156.6
p.W102C
c.306G>C
2 papers
NM_000156.6
p.N92D
c.274A>G
1 paper
NM_000156.6
p.W87_E90del0
c.261_269del9
1 paper
NM_000156.6
p.P104R
c.311C>G
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