Varaico: Literature-Extracted Genetic Variants

Gene:GATM
Variant:p.F190C

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.F190C
c.569T>G
Surrounding Variants
1 paper
NM_001482.3
p.F191S
c.572T>C
1 paper
NM_001482.3
p.R189C
c.565C>T
1 paper
NM_001482.3
p.A185_R187Fs
c.554_559delinsTGTGFs
3 papers
NM_001482.3
p.A185P
c.553G>C
1 paper
NM_001482.3
p.A185T
c.553G>A
2 papers
NM_001482.3
p.A182V
c.545C>T
1 paper
NM_001482.3
p.S198L
c.593C>T
1 paper
NM_001482.3
p.E181K
c.541G>A
1 paper
NM_001482.3
p.K201N
c.603A>C
1 paper
NM_001482.3
p.I179_I180ins4
c.535_539ins12
4 papers
NM_001482.3
p.Y203S
c.608A>C
1 paper
NM_001482.3
p.Y203*
c.609C>A
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."