Varaico: Literature-Extracted Genetic Variants

Gene:GATM
Variant:p.D348Splc

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.D348Splc
c.1043-254A>G
Surrounding Variants
1 paper
NM_001482.3
p.S355A
c.1063T>G
1 paper
NM_001482.3
p.E367_K368delFs
c.1101_1104del4
1 paper
NM_001482.3
p.R369R
c.1107T>C
1 paper
NM_001482.3
p.M371fs
c.1111_1112fs
5 papers
NM_001482.3
p.M371insFs
c.1111dupA
1 paper
NM_001482.3
p.M371insFs
c.1112dupT
1 paper
NM_001482.3
p.V377I
c.1129G>A
1 paper
NM_001482.3
p.G387Splc
c.1159+28C>T
1 paper
NM_001482.3
p.G387Splc
c.1159+39A>G
1 paper
NM_001482.3
p.P346L
c.1037C>T
1 paper
NM_001482.3
p.I345T
c.1034T>C
1 paper
NM_001482.3
p.I344V
c.1030A>G
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