Varaico: Literature-Extracted Genetic Variants

Gene:GATM
Variant:p.P116P

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.P116P
c.348C>A
Surrounding Variants
1 paper
NM_001482.3
p.H119Y
c.355C>T
1 paper
NM_001482.3
p.L120F
c.360G>T
1 paper
NM_001482.3
p.L120F
c.360G>C
1 paper
NM_001482.3
p.G111_G112del1
c.333_335delCCT
1 paper
NM_001482.3
p.K121Q
c.361A>C
10 papers
NM_001482.3
p.Q110H
c.330A>T
9 papers
NM_001482.3
p.Q110H
c.330A>C
1 paper
NM_001482.3
p.A123S
c.367G>T
1 paper
NM_001482.3
p.A123P
c.367G>C
1 paper
NM_001482.3
p.K109K
c.327G>A
1 paper
NM_001482.3
p.E126V
c.377A>T
1 paper
NM_001482.3
p.P105L
c.314C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."