Varaico: Literature-Extracted Genetic Variants

Gene:GAMT
Variant:p.P82S

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.P82S
c.244C>T
Surrounding Variants
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.D84_E85del0
c.250_255del6
3 papers
NM_000156.6
p.S76L
c.227C>T
3 papers
NM_000156.6
p.A75V
c.224C>T
2 papers
NM_000156.6
p.A74P
c.220G>C
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.I73delFs
c.219delG
2 papers
NM_000156.6
p.I89del1
c.265_266delGAT
1 paper
NM_000156.6
p.W87_E90delFs
c.261_268del8
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."