Varaico: Literature-Extracted Genetic Variants

Gene:AREL1
Variant:p.R38R

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.R38R
c.114C>T
Surrounding Variants
1 paper
NM_001039479.2
p.E39G
c.116A>G
1 paper
NM_001039479.2
p.V50M
c.148G>A
1 paper
NM_001039479.2
p.A26A
c.78C>T
1 paper
NM_001039479.2
p.L22F
c.64C>T
1 paper
NM_001039479.2
p.C60F
c.179G>T
1 paper
NM_001039479.2
p.P69S
c.205C>T
1 paper
NM_001039479.2
p.R79*
c.235C>T
1 paper
NM_001039479.2
p.G6Splc
c.17-28C>T
1 paper
NM_001039479.2
p.Y84C
c.251A>G
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.G87A
c.260G>C
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."