Varaico: Literature-Extracted Genetic Variants

Gene:GNMT
Variant:p.A87delFs

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
2 papers
NM_018960.6
p.A87delFs
c.260delC
Surrounding Variants
2 papers
NM_018960.6
p.A87fs
c.259_260fs
1 paper
NM_018960.6
p.S81N
c.242G>A
1 paper
NM_018960.6
p.L96F
c.286C>T
1 paper
NM_018960.6
p.K97N
c.291G>C
1 paper
NM_018960.6
p.L75M
c.223C>A
2 papers
NM_018960.6
p.R99H
c.296G>A
1 paper
NM_018960.6
p.P106T
c.316C>A
1 paper
NM_018960.6
p.A107T
c.319G>A
1 paper
NM_018960.6
p.G69Splc
c.207-111G>A
1 paper
NM_018960.6
p.V112Splc
c.335-2A>G
1 paper
NM_018960.6
p.A135S
c.403G>T
2 papers
NM_018960.6
p.N141S
c.422A>G
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