Varaico: Literature-Extracted Genetic Variants

Gene:GATM
Variant:p.Y203S

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
4 papers
NM_001482.3
p.Y203S
c.608A>C
Surrounding Variants
1 paper
NM_001482.3
p.Y203*
c.609C>A
1 paper
NM_001482.3
p.K201N
c.603A>C
1 paper
NM_001482.3
p.R206H
c.617G>A
1 paper
NM_001482.3
p.A208T
c.622G>A
1 paper
NM_001482.3
p.S198L
c.593C>T
1 paper
NM_001482.3
p.G207_A208del2
c.619_623del6
4 papers
NM_001482.3
p.W210*
c.629G>A
4 papers
NM_001482.3
p.W210*
c.630G>A
1 paper
NM_001482.3
p.F191S
c.572T>C
1 paper
NM_001482.3
p.F190C
c.569T>G
1 paper
NM_001482.3
p.R189C
c.565C>T
1 paper
NM_001482.3
p.M218T
c.653T>C
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