Varaico: Literature-Extracted Genetic Variants

Gene:ARIH1
Variant:p.V349A

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.V349A
c.1046T>C
Surrounding Variants
1 paper
NM_005744.5
p.T350A
c.1048A>G
1 paper
NM_005744.5
p.T350K
c.1049C>A
1 paper
NM_005744.5
p.E352A
c.1055A>C
2 papers
NM_005744.5
p.E343A
c.1028A>C
11 papers
NM_005744.5
p.C357S
c.1069T>A
11 papers
NM_005744.5
p.C357S
c.1070G>C
1 paper
NM_005744.5
p.V361D
c.1082T>A
1 paper
NM_005744.5
p.C362Y
c.1085G>A
2 papers
NM_005744.5
p.R363H
c.1088G>A
1 paper
NM_005744.5
p.E370A
c.1109A>C
1 paper
NM_005744.5
p.V374L
c.1120G>T
2 papers
NM_005744.5
p.V374A
c.1121T>C
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