Varaico: Literature-Extracted Genetic Variants

Gene:GATM
Variant:p.G387Splc

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.G387Splc
c.1160-813T>C
Surrounding Variants
1 paper
NM_001482.3
p.G387Splc
c.1159+744G>A
1 paper
NM_001482.3
p.G387Splc
c.1159+195A>G
1 paper
NM_001482.3
p.G387Splc
c.1160-46C>T
3 papers
NM_001482.3
p.T390I
c.1169C>T
1 paper
NM_001482.3
p.G387Splc
c.1159+39A>G
1 paper
NM_001482.3
p.G387Splc
c.1159+28C>T
1 paper
NM_001482.3
p.G402R
c.1204G>C
1 paper
NM_001482.3
p.G402R
c.1204G>A
2 papers
NM_001482.3
p.C407S
c.1219T>A
2 papers
NM_001482.3
p.C407S
c.1220G>C
1 paper
NM_001482.3
p.W408del1
c.1222_1224delCCA
1 paper
NM_001482.3
p.V412A
c.1235T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."