Varaico: Literature-Extracted Genetic Variants

Gene:ARG1
Variant:p.R225fs

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.R225fs
c.673_674fs
Surrounding Variants
3 papers
NM_000045.4
p.R225fs
c.673_674fs
1 paper
NM_001244438.2
p.K232I
c.695A>T
6 papers
NM_000045.4
p.R225delFs
c.673delA
1 paper
NM_000045.4
p.K224_R225delFs
c.670_673del4
1 paper
NM_001369020.1
p.K139_R140del2
c.415_419del6
1 paper
NM_001244438.2
p.I235fs
c.703_704fs
1 paper
NM_000045.4
p.K223Q
c.667A>C
1 paper
NM_001244438.2
p.I235delFs
c.704delT
3 papers
NM_000045.4
p.R222Splc
c.666-2A>G
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.L229L
c.687A>G
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