Varaico: Literature-Extracted Genetic Variants

Gene:ARG1
Variant:p.D124E

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.D124E
c.372T>A
Surrounding Variants
1 paper
NM_000045.4
p.A125T
c.373G>A
1 paper
NM_000045.4
p.A125P
c.373G>C
6 papers
NM_000045.4
p.A125V
c.374C>T
2 papers
NM_000045.4
p.D124N
c.370G>A
2 papers
NM_000045.4
p.D124Y
c.370G>T
NM_001244438.2
p.D132Y
c.394G>T
1 paper
NM_000045.4
p.D124_H126del3
c.370_377del9
1 paper
NM_000045.4
p.A125A
c.375T>A
1 paper
NM_000045.4
p.H126N
c.376C>A
1 paper
NM_000045.4
p.H126H
c.378C>T
10 papers
NM_000045.4
p.W122*
c.366G>A
13 papers
NM_000045.4
p.W122*
c.365G>A
2 papers
NM_000045.4
p.I121_W122insCTT
c.361_365ins9
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."