Varaico: Literature-Extracted Genetic Variants

Gene:GATM
Variant:p.P320S

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
5 papers
NM_001482.3
p.P320S
c.958C>T
Surrounding Variants
2 papers
NM_001482.3
p.S318Y
c.953C>A
4 papers
NM_001482.3
p.R322P
c.965G>C
1 paper
NM_001482.3
p.G314_I315del1
c.942_944delATA
1 paper
NM_001482.3
p.H325insFs
c.973_974ins4
1 paper
NM_001482.3
p.G312V
c.935G>T
1 paper
NM_001482.3
p.F308L
c.922T>C
1 paper
NM_001482.3
p.D305A
c.914A>C
1 paper
NM_001482.3
p.D305N
c.913G>A
1 paper
NM_001482.3
p.I304T
c.911T>C
1 paper
NM_001482.3
p.P301L
c.902C>T
1 paper
NM_001482.3
p.P301S
c.901C>T
1 paper
NM_001482.3
p.Q326_I327Splc
c.978+43T>C
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