Varaico: Literature-Extracted Genetic Variants

Gene:ARG1
Variant:p.Y176_G178del3

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.Y176_G178del3
c.526_533del9
Surrounding Variants
1 paper
NM_001244438.2
p.Y184fs
c.550_551fs
1 paper
NM_001244438.2
p.Y184delFs
c.551delA
2 papers
NM_000045.4
p.V175fs
c.523_524fs
2 papers
NM_000045.4
p.V175fs
c.523_524fs
1 paper
NM_001244438.2
p.V183_Y184delFs
c.549_552del4
1 paper
NM_000045.4
p.I174I
c.522T>C
3 papers
NM_000045.4
p.V175delFs
c.523delG
1 paper
NM_000045.4
p.I177V
c.529A>G
2 papers
NM_000045.4
p.I174fs
c.520_521fs
3 papers
NM_000045.4
p.G178D
c.533G>A
1 paper
NM_000045.4
p.D173insFs
c.517dupG
1 paper
NM_000045.4
p.K172_I177del6
c.514_530del18
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