Varaico: Literature-Extracted Genetic Variants

Gene:GATM
Variant:p.P301L

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.P301L
c.902C>T
Surrounding Variants
1 paper
NM_001482.3
p.P301S
c.901C>T
1 paper
NM_001482.3
p.I304T
c.911T>C
1 paper
NM_001482.3
p.D305N
c.913G>A
1 paper
NM_001482.3
p.D305A
c.914A>C
2 papers
NM_001482.3
p.F296L
c.888T>G
2 papers
NM_001482.3
p.F296L
c.888T>A
2 papers
NM_001482.3
p.F296L
c.886T>C
1 paper
NM_001482.3
p.F308L
c.922T>C
1 paper
NM_001482.3
p.I293delFs
c.878_879delGA
2 papers
NM_001482.3
p.H292R
c.875A>G
1 paper
NM_001482.3
p.V291_H292ins4
c.871_875ins12
1 paper
NM_001482.3
p.G312V
c.935G>T
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