Varaico: Literature-Extracted Genetic Variants

Gene:GATM
Variant:p.I173V

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.I173V
c.517A>G
Surrounding Variants
1 paper
NM_001482.3
p.D170N
c.508G>A
2 papers
NM_001482.3
p.R169Q
c.506G>A
5 papers
NM_001482.3
p.R169*
c.505C>T
1 paper
NM_001482.3
p.I179_I180ins4
c.535_539ins12
1 paper
NM_001482.3
p.A166V
c.497C>T
1 paper
NM_001482.3
p.E181K
c.541G>A
1 paper
NM_001482.3
p.Y164insFs
c.491_492insG
2 papers
NM_001482.3
p.A182V
c.545C>T
1 paper
NM_001482.3
p.L163S
c.488T>C
1 paper
NM_001482.3
p.G162C
c.484G>T
3 papers
NM_001482.3
p.A185P
c.553G>C
1 paper
NM_001482.3
p.A185T
c.553G>A
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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."