Varaico: Literature-Extracted Genetic Variants

Gene:AREL1
Variant:p.L464P

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.L464P
c.1391T>C
Surrounding Variants
1 paper
NM_001039479.2
p.T463T
c.1389C>T
1 paper
NM_001039479.2
p.S467G
c.1399A>G
1 paper
NM_001039479.2
p.R457G
c.1369A>G
1 paper
NM_001039479.2
p.E473*
c.1417G>T
1 paper
NM_001039479.2
p.R451W
c.1351C>T
1 paper
NM_001039479.2
p.I433M
c.1299A>G
1 paper
NM_001039479.2
p.K431T
c.1292A>C
1 paper
NM_001039479.2
p.K431E
c.1291A>G
1 paper
NM_001039479.2
p.R427H
c.1280G>A
2 papers
NM_001039479.2
p.R427C
c.1279C>T
1 paper
NM_001039479.2
p.V402V
c.1206G>A
1 paper
NM_001039479.2
p.P394S
c.1180C>T
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