Varaico: Literature-Extracted Genetic Variants

Gene:ARG1
Variant:p.G272R

ARG1

216 papers

RefSeq Summary

Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exist (types I and II) which differ in their tissue distribution, subcellular localizat...

Pfam Domains

Arginaseaa 6–305UCSCArginase family
Arginaseaa 102–220UCSCArginase family

Gene Aliases

HGNC Name

arginase 1

HGNC Previous Name

arginase, liver

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000045.4
p.G272R
c.814G>A
Surrounding Variants
2 papers
NM_000045.4
p.G272R
c.814G>C
1 paper
NM_000045.4
p.S271S
c.813A>G
1 paper
NM_000045.4
p.S271S
c.813A>T
1 paper
NM_000045.4
p.G272E
c.815G>A
1 paper
NM_001244438.2
p.D282delFs
c.844delG
3 papers
NM_000045.4
p.D274N
c.820G>A
1 paper
NM_000045.4
p.D274G
c.821A>G
1 paper
NM_001369020.1
p.L184delFs
c.551delT
1 paper
NM_001244438.2
p.I283delFs
c.849delA
1 paper
NM_001369020.1
p.G183_L184delFs
c.549_552del4
1 paper
NM_001244438.2
p.G276Splc
c.827-2A>T
1 paper
NM_001369020.1
p.M191_E192delFs
c.573_576del4
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