Varaico: Literature-Extracted Genetic Variants

Gene:AREL1
Variant:p.I170fs

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.I170fs
c.508_509fs
Surrounding Variants
1 paper
NM_001039479.2
p.T168delFs
c.504delG
1 paper
NM_001039479.2
p.G182E
c.545G>A
1 paper
NM_001039479.2
p.P184P
c.552G>T
1 paper
NM_001039479.2
p.D207V
c.620A>T
1 paper
NM_001039479.2
p.H209Y
c.625C>T
2 papers
NM_001039479.2
p.S229fs
c.685_686fs
1 paper
NM_001039479.2
p.F230C
c.689T>G
1 paper
NM_001039479.2
p.E231Q
c.691G>C
1 paper
NM_001039479.2
p.C254R
c.760T>C
1 paper
NM_001039479.2
p.S260L
c.779C>T
1 paper
NM_001039479.2
p.Q264K
c.790C>A
1 paper
NM_001039479.2
p.R286C
c.856C>T
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