Varaico: Literature-Extracted Genetic Variants

Gene:ARG1
Variant:p.N130D

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.N130D
c.388A>G
Surrounding Variants
1 paper
NM_000045.4
p.N130Y
c.388A>T
1 paper
NM_001244438.2
p.T139_P140del2
c.415_419del6
3 papers
NM_000045.4
p.I129T
c.386T>C
1 paper
NM_000045.4
p.T131A
c.391A>G
1 paper
NM_000045.4
p.P132_S146del15
c.394_437del45
3 papers
NM_000045.4
p.I129_N130del1
c.386_388delTCA
14 papers
NM_000045.4
p.D128G
c.383A>G
1 paper
NM_000045.4
p.P132T
c.394C>A
1 paper
NM_000045.4
p.P132A
c.394C>G
1 paper
NM_000045.4
p.H126H
c.378C>T
1 paper
NM_000045.4
p.H126N
c.376C>A
6 papers
NM_000045.4
p.T134I
c.401C>T
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