Varaico: Literature-Extracted Genetic Variants

Gene:GNMT
Variant:p.P284_C285delFs

GNMT

67 papers

RefSeq Summary

The protein encoded by this gene is an enzyme that catalyzes the conversion of S-adenosyl-L-methionine (along with glycine) to S-adenosyl-L-homocysteine and sarcosine. This protein is found in the cyt...

Pfam Domains

Methyltransf_25aa 61–171UCSCMethyltransferase domain

Gene Aliases

HGNC Name

glycine N-methyltransferase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018960.6
p.P284_C285delFs
c.852_855del4
Surrounding Variants
1 paper
NM_018960.6
p.Y282C
c.845A>G
2 papers
NM_018960.6
p.Y276insFs
c.827_828insG
1 paper
NM_018960.6
p.Y276fs
c.826_827fs
1 paper
NM_018960.6
p.Y276delFs
c.826delT
4 papers
NM_018960.6
p.A259V
c.776C>T
1 paper
NM_018960.6
p.A251P
c.751G>C
1 paper
NM_018960.6
p.L250L
c.748C>T
1 paper
NM_018960.6
p.C249Y
c.746G>A
1 paper
NM_018960.6
p.L243_S244insFs
c.729_730insTT
1 paper
NM_018960.6
p.R242W
c.724C>T
1 paper
NM_018960.6
p.D233V
c.698A>T
1 paper
NM_018960.6
p.G229W
c.685G>T
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