Varaico: Literature-Extracted Genetic Variants

Gene:AREL1
Variant:p.Q119E

AREL1

66 papers

Pfam Domains

AREL1_Naa 2–52UCSCAREL1 N-terminal domain
Filaminaa 54–155UCSCFilamin/ABP280 repeat
AREL1_PH-likeaa 341–436UCSCAREL1 PH-like domain
HECTaa 512–823UCSCHECT-domain (ubiquitin-transferase)

Gene Aliases

HGNC Name

apoptosis resistant E3 ubiquitin protein ligase 1

HGNC Previous Symbol

KIAA0317

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001039479.2
p.Q119E
c.355C>G
Surrounding Variants
1 paper
NM_001039479.2
p.V109_E110insFKK
c.325_329ins9
1 paper
NM_001039479.2
p.R133C
c.397C>T
1 paper
NM_001039479.2
p.R137C
c.409C>T
1 paper
NM_001039479.2
p.R94Q
c.281G>A
1 paper
NM_001039479.2
p.H93Y
c.277C>T
1 paper
NM_001039479.2
p.P91L
c.272C>T
1 paper
NM_001039479.2
p.G87A
c.260G>C
1 paper
NM_001039479.2
p.G87R
c.259G>C
1 paper
NM_001039479.2
p.G87R
c.259G>A
1 paper
NM_001039479.2
p.Y84C
c.251A>G
1 paper
NM_001039479.2
p.Y155C
c.464A>G
1 paper
NM_001039479.2
p.R79*
c.235C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."