Varaico: Literature-Extracted Genetic Variants

Gene:GATM
Variant:p.T136M

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
2 papers
NM_001482.3
p.T136M
c.407C>T
Surrounding Variants
1 paper
NM_001482.3
p.T136K
c.407C>A
1 paper
NM_001482.3
p.T136A
c.406A>G
1 paper
NM_001482.3
p.K135ins1
c.403_404insATC
1 paper
NM_001482.3
p.V139L
c.415G>C
1 paper
NM_001482.3
p.T140I
c.419C>T
1 paper
NM_001482.3
p.M130L
c.388A>T
1 paper
NM_001482.3
p.E126V
c.377A>T
15 papers
NM_001482.3
p.W149*
c.446G>A
1 paper
NM_001482.3
p.A123S
c.367G>T
1 paper
NM_001482.3
p.A123P
c.367G>C
15 papers
NM_001482.3
p.W149*
c.447G>A
1 paper
NM_001482.3
p.K121Q
c.361A>C
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