Varaico: Literature-Extracted Genetic Variants

Gene:ARG1
Variant:p.V293delFs

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
3 papers
NM_000045.4
p.V293delFs
c.877delG
Surrounding Variants
1 paper
NM_001369020.1
p.T207K
c.620C>A
1 paper
NM_000045.4
p.V293fs
c.877_878fs
1 paper
NM_000045.4
p.V293insFs
c.878_879ins4
1 paper
NM_001369020.1
p.N209_T210delFs
c.627_628delCA
1 paper
NM_000045.4
p.R291Q
c.872G>A
1 paper
NM_000045.4
p.R291P
c.872G>C
16 papers
NM_000045.4
p.R291*
c.871C>T
1 paper
NM_000045.4
p.N294K
c.882C>A
1 paper
NM_000045.4
p.N294K
c.882C>G
1 paper
NM_000045.4
p.A296_V297del1
c.887_889delCAG
4 papers
NM_000045.4
p.T290S
c.869C>G
2 papers
NM_000045.4
p.T290fs
c.868_869fs
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