Varaico: Literature-Extracted Genetic Variants

Gene:GAMT
Variant:p.D84_E85del0

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.D84_E85del0
c.250_255del6
Surrounding Variants
1 paper
NM_000156.6
p.E90Q
c.268G>C
1 paper
NM_000156.6
p.E90K
c.268G>A
2 papers
NM_000156.6
p.I89del1
c.265_266delGAT
1 paper
NM_000156.6
p.P82S
c.244C>T
1 paper
NM_000156.6
p.W87_E90delFs
c.261_268del8
1 paper
NM_000156.6
p.W87_E90del0
c.261_269del9
2 papers
NM_000156.6
p.N92D
c.274A>G
2 papers
NM_000156.6
p.Q79*
c.235C>T
3 papers
NM_000156.6
p.V78E
c.233T>A
1 paper
NM_000156.6
p.V78M
c.232G>A
1 paper
NM_000156.6
p.V95I
c.283G>A
1 paper
NM_000156.6
p.D93_V95Fs
c.278_283delinsCTCGATGCACFs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."