Varaico: Literature-Extracted Genetic Variants

Gene:GATM
Variant:p.T336A

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.T336A
c.1006A>G
Surrounding Variants
1 paper
NM_001482.3
p.A333_W335del3
c.997_1004del9
5 papers
NM_001482.3
p.T336I
c.1007C>T
1 paper
NM_001482.3
p.I337M
c.1011C>G
2 papers
NM_001482.3
p.P341S
c.1021C>T
6 papers
NM_001482.3
p.P341L
c.1022C>T
1 paper
NM_001482.3
p.P341P
c.1023A>G
1 paper
NM_001482.3
p.L329V
c.985C>G
1 paper
NM_001482.3
p.I344V
c.1030A>G
1 paper
NM_001482.3
p.I345T
c.1034T>C
1 paper
NM_001482.3
p.P346L
c.1037C>T
1 paper
NM_001482.3
p.Q326_I327Splc
c.979-39T>C
1 paper
NM_001482.3
p.Q326_I327Splc
c.979-316A>G
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