Varaico: Literature-Extracted Genetic Variants

Gene:ARG1
Variant:p.S230N

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.S230N
c.689G>A
Surrounding Variants
1 paper
NM_000045.4
p.S230G
c.688A>G
1 paper
NM_000045.4
p.L229L
c.687A>G
1 paper
NM_001369020.1
p.S145_F146del2
c.433_437del6
1 paper
NM_000045.4
p.D232A
c.695A>C
3 papers
NM_000045.4
p.D232V
c.695A>T
1 paper
NM_001244438.2
p.H236_S238insFs
c.708_712dup5
2 papers
NM_000045.4
p.H228D
c.682C>G
1 paper
NM_000045.4
p.V233delFs
c.697delG
1 paper
NM_000045.4
p.V233A
c.698T>C
1 paper
NM_001244438.2
p.I235fs
c.703_704fs
1 paper
NM_001244438.2
p.I235delFs
c.704delT
4 papers
NM_000045.4
p.D234H
c.700G>C
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