Varaico: Literature-Extracted Genetic Variants

Gene:ARG1
Variant:p.N139_L140del2

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
1 paper
NM_000045.4
p.N139_L140del2
c.415_419del6
Surrounding Variants
2 papers
NM_000045.4
p.N139D
c.415A>G
7 papers
NM_001244438.2
p.G146V
c.437G>T
NM_000045.4
p.G138V
c.413G>T
1 paper
NM_000045.4
p.S137C
c.409A>T
1 paper
NM_000045.4
p.L140L
c.420G>A
2 papers
NM_000045.4
p.H141N
c.421C>A
2 papers
NM_000045.4
p.H141Y
c.421C>T
1 paper
NM_001244438.2
p.S145_G146del2
c.433_437del6
13 papers
NM_000045.4
p.H141L
c.422A>T
1 paper
NM_000045.4
p.T135S
c.404C>G
3 papers
NM_000045.4
p.T135I
c.404C>T
1 paper
NM_000045.4
p.T135A
c.403A>G
1 paper
NM_000045.4
p.T135S
c.403A>T
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