Varaico: Literature-Extracted Genetic Variants

Gene:GATM
Variant:p.K154ins1

GATM

198 papers

RefSeq Summary

This gene encodes a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-ar...

Gene Aliases

HGNC Name

glycine amidinotransferase

HGNC Alias Symbol

AGAT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001482.3
p.K154ins1
c.461_462insATC
Surrounding Variants
1 paper
NM_001482.3
p.Y153F
c.458A>T
1 paper
NM_001482.3
p.D157G
c.470A>G
1 paper
NM_001482.3
p.F158F
c.474T>C
15 papers
NM_001482.3
p.W149*
c.447G>A
15 papers
NM_001482.3
p.W149*
c.446G>A
1 paper
NM_001482.3
p.T161T
c.483G>T
1 paper
NM_001482.3
p.G162C
c.484G>T
7 papers
NM_001482.3
p.G162Splc
c.484+1G>T
1 paper
NM_001482.3
p.T140I
c.419C>T
1 paper
NM_001482.3
p.V139L
c.415G>C
2 papers
NM_001482.3
p.T136M
c.407C>T
1 paper
NM_001482.3
p.T136K
c.407C>A
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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."