Varaico: Literature-Extracted Genetic Variants

Gene:ARIH1
Variant:p.E499A

ARIH1

119 papers

Pfam Domains

UBA_ARI1aa 111–151UCSCE3 ubiquitin-protein ligase ARIH1, UBA-like domain
zf-C3HC4aa 186–233UCSCZinc finger, C3HC4 type (RING finger)
IBRaa 256–317UCSCIBR domain, a half RING-finger domain
IBR_1aa 339–385UCSCIBR domain
Ariadneaa 412–551UCSCAriadne domain

Gene Aliases

HGNC Name

ariadne RBR E3 ubiquitin protein ligase 1

HGNC Alias Symbols

HARI; HHARI; UBCH7BP; ARI

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005744.5
p.E499A
c.1496A>C
Surrounding Variants
1 paper
NM_005744.5
p.D497E
c.1491T>A
1 paper
NM_005744.5
p.D497E
c.1491T>G
1 paper
NM_005744.5
p.D497A
c.1490A>C
8 papers
NM_005744.5
p.E503A
c.1508A>C
1 paper
NM_005744.5
p.L505I
c.1513C>A
1 paper
NM_005744.5
p.S506L
c.1517C>T
1 paper
NM_005744.5
p.S517C
c.1550C>G
3 papers
NM_005744.5
p.R530I
c.1589G>T
1 paper
NM_005744.5
p.E492A
c.1475A>C
1 paper
NM_005744.5
p.E533V
c.1598A>T
1 paper
NM_005744.5
p.R535*
c.1603C>T
1 paper
NM_005744.5
p.V538I
c.1612G>A
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