Varaico: Literature-Extracted Genetic Variants

Gene:ARG1
Variant:p.Y317_L318delFs

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.Y317_L318delFs
c.950_953del4
Surrounding Variants
1 paper
NM_000045.4
p.I315_D316insFs
c.945_946insC
1 paper
NM_000045.4
p.Y317C
c.950A>G
1 paper
NM_001369020.1
p.Y232F
c.695A>T
1 paper
NM_000045.4
p.I315T
c.944T>C
1 paper
NM_000045.4
p.L318insFs
c.952_953insA
1 paper
NM_000045.4
p.L318H
c.953T>A
1 paper
NM_000045.4
p.L318P
c.953T>C
1 paper
NM_000045.4
p.K313R
c.938A>G
1 paper
NM_000045.4
p.N319S
c.956A>G
1 paper
NM_001369020.1
p.P235delFs
c.704delC
1 paper
NM_001244438.2
p.K321fs
c.961_962fs
1 paper
NM_000045.4
p.H312H
c.936C>T
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