Varaico: Literature-Extracted Genetic Variants

Gene:AREL1
Variant:p.P779L

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
2 papers
NM_001039479.2
p.P779L
c.2336C>T
Surrounding Variants
1 paper
NM_001039479.2
p.P779A
c.2335C>G
1 paper
NM_001039479.2
p.A778S
c.2332G>T
1 paper
NM_001039479.2
p.T783A
c.2347A>G
1 paper
NM_001039479.2
p.C770S
c.2309G>C
1 paper
NM_001039479.2
p.C770S
c.2308T>A
1 paper
NM_001039479.2
p.Q753*
c.2257C>T
1 paper
NM_001039479.2
p.M733R
c.2198T>G
1 paper
NM_001039479.2
p.E804D
c.2412G>T
1 paper
NM_001039479.2
p.E701A
c.2102A>C
1 paper
NM_001039479.2
p.E641K
c.1921G>A
1 paper
NM_001039479.2
p.T527fs
c.1579_1580fs
1 paper
NM_001039479.2
p.D520H
c.1558G>C
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