Varaico: Literature-Extracted Genetic Variants

Gene:GAMT
Variant:p.Q106P

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.Q106P
c.317A>C
Surrounding Variants
1 paper
NM_000156.6
p.Q106R
c.317A>G
5 papers
NM_000156.6
p.Q106*
c.316C>T
1 paper
NM_000156.6
p.R105Q
c.314G>A
3 papers
NM_000156.6
p.R105fs
c.313_314fs
1 paper
NM_000156.6
p.L99_A103insFs
c.297_309dup13
1 paper
NM_000156.6
p.P104fs
c.310_311fs
1 paper
NM_000156.6
p.P104R
c.311C>G
1 paper
NM_000156.6
p.P104insFs
c.311_312ins8
1 paper
NM_000156.6
p.P104insFs
c.311_312ins13
1 paper
NM_000156.6
p.T107_H108del1
c.321_323delTGT
2 papers
NM_000156.6
p.H108delFs
c.324delG
36 papers
NM_000156.6
p.K109K
c.327G>A
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