Varaico: Literature-Extracted Genetic Variants

Gene:GAMT
Variant:p.W174R

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.W174R
c.520T>A
Surrounding Variants
1 paper
NM_000156.6
p.W174R
c.520T>C
11 papers
NM_000156.6
p.W174*
c.521G>A
2 papers
NM_000156.6
p.C169_W174ins2
c.507_521dup15
10 papers
NM_000156.6
p.W174*
c.522G>A
1 paper
NM_000156.6
p.E176*
c.526G>T
2 papers
NM_000156.6
p.E176fs
c.526_527fs
1 paper
NM_000156.6
p.G164_L171del8
c.490_512del24
8 papers
NM_000156.6
p.E176insFs
c.526dupG
2 papers
NM_000156.6
p.E176delFs
c.526delC
2 papers
NM_000156.6
p.N170T
c.509A>C
11 papers
NM_000156.6
p.C169Y
c.506G>A
1 paper
NM_000156.6
p.T167I
c.500C>T
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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."