Varaico: Literature-Extracted Genetic Variants

Gene:ARIH1
Variant:p.V245A

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.V245A
c.734T>C
Surrounding Variants
1 paper
NM_005744.5
p.D242A
c.725A>C
1 paper
NM_005744.5
p.D237A
c.710A>C
1 paper
NM_005744.5
p.G235D
c.704G>A
1 paper
NM_005744.5
p.H234Q
c.702T>A
1 paper
NM_005744.5
p.H234Q
c.702T>G
2 papers
NM_005744.5
p.H234_G235insGGC
c.700_704ins9
1 paper
NM_005744.5
p.S230L
c.689C>T
1 paper
NM_005744.5
p.E223G
c.668A>G
2 papers
NM_005744.5
p.L216delFs
c.647delT
1 paper
NM_005744.5
p.Y215fs
c.643_644fs
1 paper
NM_005744.5
p.S196_Y197Splc
c.589-35A>G
1 paper
NM_005744.5
p.D251A
c.752A>C
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