Varaico: Literature-Extracted Genetic Variants

Gene:ARG1
Variant:p.L301F

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.L301F
c.903G>C
Surrounding Variants
1 paper
NM_001244438.2
p.A310fs
c.928_929fs
1 paper
NM_001369020.1
p.L216S
c.647T>C
1 paper
NM_000045.4
p.L301W
c.902T>G
1 paper
NM_001369020.1
p.L216fs
c.646_647fs
1 paper
NM_001244438.2
p.L309_A310delFs
c.925_928del4
NM_001369020.1
p.L216_A217delFs
c.646_649del4
1 paper
NM_000045.4
p.T300N
c.899C>A
1 paper
NM_000045.4
p.T300S
c.899C>G
1 paper
NM_000045.4
p.C303G
c.907T>G
1 paper
NM_000045.4
p.T300S
c.898A>T
1 paper
NM_000045.4
p.F304L
c.910T>C
1 paper
NM_000045.4
p.T300delFs
c.898delA
1 paper
NM_000045.4
p.F304F
c.912C>T
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