Varaico: Literature-Extracted Genetic Variants

Gene:ARG1
Variant:p.Q43H

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.Q43H
c.129A>T
Surrounding Variants
1 paper
NM_000045.4
p.Q43H
c.129A>C
1 paper
NM_000045.4
p.Q43insFs
c.128_129ins5
1 paper
NM_000045.4
p.Q43delFs
c.129delA
4 papers
NM_000045.4
p.E44Splc
c.130+1G>A
5 papers
NM_000045.4
p.E42*
c.124G>T
2 papers
NM_000045.4
p.K41ins1
c.121_122insCTT
2 papers
NM_000045.4
p.K41fs
c.121_122fs
1 paper
NM_000045.4
p.E42del1
c.124_125delGAA
2 papers
NM_000045.4
p.K39R
c.116A>G
1 paper
NM_000045.4
p.E44Splc
c.130+12G>A
1 paper
NM_000045.4
p.E44Splc
c.130+20A>G
1 paper
NM_000045.4
p.L36M
c.106C>A
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